Linked Data
ClinVar Variation Id:
13957
ClinVar RCV Id:
RCV000014985
RCV000014986
RCV000020509
RCV000157426
RCV000157685
RCV000149826
RCV000418940
RCV000436233
RCV000428775
RCV000515222
RCV000435984
RCV000824754
RCV000856803
RCV001731288
RCV001813205
RCV002399323
RCV003231105
dbSNP Id:
rs80338796
PubMed:
PMID:1760348
PMID:16523510
PMID:17603482
PMID:17603483
PMID:19437094
PMID:20052757
PMID:20301557
PMID:20876176
PMID:21396583
PMID:21784453
PMID:22389993
PMID:22826437
PMID:23613113
PMID:23877478
PMID:23891399
PMID:24775816
PMID:24777450
PMID:25706034
PMID:26446362
PMID:26619011
PMID:26903553
ERepo:
CA235334/MONDO:0018997/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12604200G>A , CM000665.2:g.12604200G>A | GRCh38 |
| NC_000003.11:g.12645699G>A , CM000665.1:g.12645699G>A | GRCh37 |
| NC_000003.10:g.12620699G>A | NCBI36 |
| NG_007467.1:g.64980C>T , LRG_413:g.64980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416093.2:c.*447C>T | ENSP00000391265.2:n.*447C>T | |
| ENST00000423275.6:c.*447C>T | ENSP00000401088.1:n.*447C>T | |
| ENST00000432427.3:c.90C>T | ||
| ENST00000465826.6:n.361C>T | ||
| ENST00000491290.2:n.1147C>T | ||
| ENST00000684903.1:c.*447C>T | ENSP00000508612.1:n.*447C>T | |
| ENST00000685348.1:c.*447C>T | ENSP00000510285.1:n.*447C>T | |
| ENST00000685437.1:c.671C>T | ENSP00000508794.1:p.Ser224Leu | |
| ENST00000685653.1:c.770C>T | ENSP00000509968.1:p.Ser257Leu | |
| ENST00000685738.1:c.770C>T | ENSP00000510156.1:p.Ser257Leu | |
| ENST00000685959.1:c.770C>T | ENSP00000510452.1:p.Ser257Leu | |
| ENST00000686409.1:n.1370C>T | ||
| ENST00000686455.1:n.1133C>T | ||
| ENST00000686479.1:n.1141C>T | ||
| ENST00000686762.1:c.770C>T | ENSP00000509767.1:p.Ser257Leu | |
| ENST00000687257.1:n.1006C>T | ||
| ENST00000687326.1:c.770C>T | ENSP00000509665.1:p.Ser257Leu | |
| ENST00000687486.1:c.90C>T | ||
| ENST00000687505.1:n.888C>T | ||
| ENST00000687923.1:c.671C>T | ENSP00000510255.1:p.Ser224Leu | |
| ENST00000687940.1:n.1147C>T | ||
| ENST00000688269.1:n.1378C>T | ||
| ENST00000688326.1:c.90C>T | ||
| ENST00000688444.1:n.1096C>T | ||
| ENST00000688543.1:c.671C>T | ENSP00000509612.1:p.Ser224Leu | |
| ENST00000688625.1:c.*348C>T | ENSP00000509522.1:n.*348C>T | |
| ENST00000688803.1:n.1001C>T | ||
| ENST00000689033.1:c.770C>T | ENSP00000508983.1:p.Ser257Leu | |
| ENST00000689097.1:c.*447C>T | ENSP00000509756.1:n.*447C>T | |
| ENST00000689389.1:c.770C>T | ENSP00000510213.1:p.Ser257Leu | |
| ENST00000689418.1:c.*447C>T | ENSP00000509467.1:n.*447C>T | |
| ENST00000689481.1:c.*447C>T | ENSP00000510248.1:n.*447C>T | |
| ENST00000689540.1:n.920C>T | ||
| ENST00000689876.1:c.770C>T | ENSP00000508535.1:p.Ser257Leu | |
| ENST00000689914.1:c.770C>T | ENSP00000509847.1:p.Ser257Leu | |
| ENST00000690397.1:c.671C>T | ENSP00000508730.1:p.Ser224Leu | |
| ENST00000690460.1:c.770C>T | ENSP00000509106.1:p.Ser257Leu | |
| ENST00000690625.1:n.1073C>T | ||
| ENST00000691268.1:c.262-3785C>T | ||
| ENST00000691396.1:c.*563C>T | ENSP00000510712.1:n.*563C>T | |
| ENST00000691724.1:c.770C>T | ENSP00000509255.1:p.Ser257Leu | |
| ENST00000691779.1:c.*348C>T | ENSP00000508592.1:n.*348C>T | |
| ENST00000691899.1:c.770C>T | ENSP00000508763.1:p.Ser257Leu | |
| ENST00000692093.1:c.671C>T | ENSP00000509669.1:p.Ser224Leu | |
| ENST00000692311.1:n.1143C>T | ||
| ENST00000692558.1:n.1135C>T | ||
| ENST00000692773.1:c.*447C>T | ENSP00000509055.1:n.*447C>T | |
| ENST00000692830.1:c.*515C>T | ENSP00000509461.1:n.*515C>T | |
| ENST00000693069.1:c.671C>T | ENSP00000510072.1:p.Ser224Leu | |
| ENST00000693312.1:c.545C>T | ENSP00000508686.1:p.Ser182Leu | |
| ENST00000693664.1:c.770C>T | ENSP00000509614.1:p.Ser257Leu | |
| ENST00000693705.1:c.*447C>T | ENSP00000510697.1:n.*447C>T | |
| ENST00000251849.9:c.770C>T MANE Select | ENSP00000251849.4:p.Ser257Leu | |
| ENST00000442415.7:c.770C>T | ENSP00000401888.2:p.Ser257Leu | |
| ENST00000251849.8:c.770C>T | ENSP00000251849.4:p.Ser257Leu | |
| ENST00000416093.1:c.*348C>T | ENSP00000391265.1:n.*348C>T | |
| ENST00000423275.5:c.*447C>T | ENSP00000401088.1:n.*447C>T | |
| ENST00000432427.2:c.407C>T | ENSP00000398591.2:p.Ser136Leu | |
| ENST00000442415.6:c.770C>T | ENSP00000401888.2:p.Ser257Leu | |
| ENST00000465826.5:n.14C>T | ||
| ENST00000491290.1:n.291C>T | ||
| NM_002880.3:c.770C>T , LRG_413t1:c.770C>T | NP_002871.1:p.Ser257Leu | |
| XM_005265355.1:c.770C>T | XP_005265412.1:p.Ser257Leu | |
| XM_005265357.1:c.671C>T | XP_005265414.1:p.Ser224Leu | |
| XM_005265358.3:c.527C>T | XP_005265415.1:p.Ser176Leu | |
| XM_005265359.3:c.428C>T | XP_005265416.1:p.Ser143Leu | |
| XM_005265360.1:c.770C>T | XP_005265417.1:p.Ser257Leu | |
| XM_011533974.1:c.770C>T | XP_011532276.1:p.Ser257Leu | |
| XM_011533975.1:c.527C>T | XP_011532277.1:p.Ser176Leu | |
| NM_001354689.1:c.770C>T | NP_001341618.1:p.Ser257Leu | |
| NM_001354690.1:c.770C>T | NP_001341619.1:p.Ser257Leu | |
| NM_001354691.1:c.527C>T | NP_001341620.1:p.Ser176Leu | |
| NM_001354692.1:c.527C>T | NP_001341621.1:p.Ser176Leu | |
| NM_001354693.1:c.671C>T | NP_001341622.1:p.Ser224Leu | |
| NM_001354694.1:c.527C>T | NP_001341623.1:p.Ser176Leu | |
| NM_001354695.1:c.428C>T | NP_001341624.1:p.Ser143Leu | |
| NR_148940.1:n.1185C>T | ||
| NR_148941.1:n.1185C>T | ||
| NR_148942.1:n.1185C>T | ||
| XM_011533974.3:c.770C>T | XP_011532276.1:p.Ser257Leu | |
| XM_017006966.1:c.671C>T | XP_016862455.1:p.Ser224Leu | |
| XR_001740227.1:n.1002C>T | ||
| NM_001354689.3:c.770C>T | NP_001341618.1:p.Ser257Leu | |
| NM_001354690.2:c.770C>T | NP_001341619.1:p.Ser257Leu | |
| NM_001354691.2:c.527C>T | NP_001341620.1:p.Ser176Leu | |
| NM_001354692.2:c.527C>T | NP_001341621.1:p.Ser176Leu | |
| NM_001354693.2:c.671C>T | NP_001341622.1:p.Ser224Leu | |
| NM_001354694.2:c.527C>T | NP_001341623.1:p.Ser176Leu | |
| NM_001354695.2:c.428C>T | NP_001341624.1:p.Ser143Leu | |
| NR_148940.2:n.1101C>T | ||
| NR_148941.2:n.1101C>T | ||
| NR_148942.2:n.1101C>T | ||
| NM_001354690.3:c.770C>T | NP_001341619.1:p.Ser257Leu | |
| NM_001354691.3:c.527C>T | NP_001341620.1:p.Ser176Leu | |
| NM_001354692.3:c.527C>T | NP_001341621.1:p.Ser176Leu | |
| NM_001354693.3:c.671C>T | NP_001341622.1:p.Ser224Leu | |
| NM_001354694.3:c.527C>T | NP_001341623.1:p.Ser176Leu | |
| NM_001354695.3:c.428C>T | NP_001341624.1:p.Ser143Leu | |
| NM_002880.4:c.770C>T MANE Select | NP_002871.1:p.Ser257Leu | |
| NR_148940.3:n.1101C>T | ||
| NR_148941.3:n.1101C>T | ||
| NR_148942.3:n.1101C>T |