Linked Data
ClinVar Variation Id:
953943
ClinVar RCV Id:
RCV001226315
dbSNP Id:
rs373658870
ExAC:
3:12641778 G / A
gnomAD v3:
3-12600279-G-A
gnomAD v4:
3-12600279-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12600279G>A , CM000665.2:g.12600279G>A | GRCh38 |
| NC_000003.11:g.12641778G>A , CM000665.1:g.12641778G>A | GRCh37 |
| NC_000003.10:g.12616778G>A | NCBI36 |
| NG_007467.1:g.68901C>T , LRG_413:g.68901C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*540-12C>T | ENSP00000401088.1:n.*540-12C>T | |
| ENST00000432427.3:c.183C>T | ||
| ENST00000465826.6:n.454C>T | ||
| ENST00000491290.2:n.1240C>T | ||
| ENST00000684903.1:c.*540C>T | ENSP00000508612.1:n.*540C>T | |
| ENST00000685348.1:c.*540C>T | ENSP00000510285.1:n.*540C>T | |
| ENST00000685437.1:c.764C>T | ENSP00000508794.1:p.Ala255Val | |
| ENST00000685438.1:n.627C>T | ||
| ENST00000685653.1:c.863C>T | ENSP00000509968.1:p.Ala288Val | |
| ENST00000685738.1:c.863C>T | ENSP00000510156.1:p.Ala288Val | |
| ENST00000686409.1:n.1571C>T | ||
| ENST00000686455.1:n.1226C>T | ||
| ENST00000686479.1:n.1234C>T | ||
| ENST00000686762.1:c.863C>T | ENSP00000509767.1:p.Ala288Val | |
| ENST00000687257.1:n.1099C>T | ||
| ENST00000687326.1:c.863C>T | ENSP00000509665.1:p.Ala288Val | |
| ENST00000687486.1:c.182+109C>T | ||
| ENST00000687505.1:n.981C>T | ||
| ENST00000687923.1:c.764C>T | ENSP00000510255.1:p.Ala255Val | |
| ENST00000687940.1:n.1240C>T | ||
| ENST00000688269.1:n.1471-12C>T | ||
| ENST00000688326.1:c.183C>T | ||
| ENST00000688444.1:n.1189C>T | ||
| ENST00000688543.1:c.764C>T | ENSP00000509612.1:p.Ala255Val | |
| ENST00000688625.1:c.*441C>T | ENSP00000509522.1:n.*441C>T | |
| ENST00000688803.1:n.1094C>T | ||
| ENST00000689097.1:c.*540C>T | ENSP00000509756.1:n.*540C>T | |
| ENST00000689389.1:c.863C>T | ENSP00000510213.1:p.Ala288Val | |
| ENST00000689418.1:c.*540C>T | ENSP00000509467.1:n.*540C>T | |
| ENST00000689481.1:c.*540C>T | ENSP00000510248.1:n.*540C>T | |
| ENST00000689540.1:n.1013C>T | ||
| ENST00000689876.1:c.863C>T | ENSP00000508535.1:p.Ala288Val | |
| ENST00000689914.1:c.863C>T | ENSP00000509847.1:p.Ala288Val | |
| ENST00000690397.1:c.764-12C>T | ENSP00000508730.1:n.764-12C>T | |
| ENST00000690460.1:c.863-12C>T | ENSP00000509106.1:n.863-12C>T | |
| ENST00000690625.1:n.1166C>T | ||
| ENST00000691268.1:c.290C>T | ||
| ENST00000691396.1:c.*656C>T | ENSP00000510712.1:n.*656C>T | |
| ENST00000691724.1:c.863C>T | ENSP00000509255.1:p.Ala288Val | |
| ENST00000691779.1:c.*441C>T | ENSP00000508592.1:n.*441C>T | |
| ENST00000691899.1:c.863C>T | ENSP00000508763.1:p.Ala288Val | |
| ENST00000692069.1:n.1086C>T | ||
| ENST00000692093.1:c.764C>T | ENSP00000509669.1:p.Ala255Val | |
| ENST00000692311.1:n.1344C>T | ||
| ENST00000692558.1:n.1228C>T | ||
| ENST00000692773.1:c.*600C>T | ENSP00000509055.1:n.*600C>T | |
| ENST00000692830.1:c.*608C>T | ENSP00000509461.1:n.*608C>T | |
| ENST00000693069.1:c.764C>T | ENSP00000510072.1:p.Ala255Val | |
| ENST00000693312.1:c.638C>T | ENSP00000508686.1:p.Ala213Val | |
| ENST00000693664.1:c.863C>T | ENSP00000509614.1:p.Ala288Val | |
| ENST00000693705.1:c.*540C>T | ENSP00000510697.1:n.*540C>T | |
| ENST00000251849.9:c.863C>T MANE Select | ENSP00000251849.4:p.Ala288Val | |
| ENST00000442415.7:c.923C>T | ENSP00000401888.2:p.Ala308Val | |
| ENST00000251849.8:c.863C>T | ENSP00000251849.4:p.Ala288Val | |
| ENST00000423275.5:c.*540C>T | ENSP00000401088.1:n.*540C>T | |
| ENST00000432427.2:c.500C>T | ENSP00000398591.2:p.Ala167Val | |
| ENST00000442415.6:c.923C>T | ENSP00000401888.2:p.Ala308Val | |
| ENST00000465826.5:n.107C>T | ||
| ENST00000491290.1:n.492C>T | ||
| NM_002880.3:c.863C>T , LRG_413t1:c.863C>T | NP_002871.1:p.Ala288Val | |
| XM_005265355.1:c.863C>T | XP_005265412.1:p.Ala288Val | |
| XM_005265357.1:c.764C>T | XP_005265414.1:p.Ala255Val | |
| XM_005265358.3:c.620C>T | XP_005265415.1:p.Ala207Val | |
| XM_005265359.3:c.521C>T | XP_005265416.1:p.Ala174Val | |
| XM_005265360.1:c.863C>T | XP_005265417.1:p.Ala288Val | |
| XM_011533974.1:c.863C>T | XP_011532276.1:p.Ala288Val | |
| XM_011533975.1:c.620C>T | XP_011532277.1:p.Ala207Val | |
| NM_001354689.1:c.923C>T | NP_001341618.1:p.Ala308Val | |
| NM_001354690.1:c.863C>T | NP_001341619.1:p.Ala288Val | |
| NM_001354691.1:c.620C>T | NP_001341620.1:p.Ala207Val | |
| NM_001354692.1:c.620C>T | NP_001341621.1:p.Ala207Val | |
| NM_001354693.1:c.764C>T | NP_001341622.1:p.Ala255Val | |
| NM_001354694.1:c.680C>T | NP_001341623.1:p.Ala227Val | |
| NM_001354695.1:c.521C>T | NP_001341624.1:p.Ala174Val | |
| NR_148940.1:n.1278C>T | ||
| NR_148941.1:n.1278C>T | ||
| NR_148942.1:n.1278C>T | ||
| XM_011533974.3:c.863C>T | XP_011532276.1:p.Ala288Val | |
| XM_017006966.1:c.764C>T | XP_016862455.1:p.Ala255Val | |
| XR_001740227.1:n.1095C>T | ||
| NM_001354689.3:c.923C>T | NP_001341618.1:p.Ala308Val | |
| NM_001354690.2:c.863C>T | NP_001341619.1:p.Ala288Val | |
| NM_001354691.2:c.620C>T | NP_001341620.1:p.Ala207Val | |
| NM_001354692.2:c.620C>T | NP_001341621.1:p.Ala207Val | |
| NM_001354693.2:c.764C>T | NP_001341622.1:p.Ala255Val | |
| NM_001354694.2:c.680C>T | NP_001341623.1:p.Ala227Val | |
| NM_001354695.2:c.521C>T | NP_001341624.1:p.Ala174Val | |
| NR_148940.2:n.1194C>T | ||
| NR_148941.2:n.1194C>T | ||
| NR_148942.2:n.1194C>T | ||
| NM_001354690.3:c.863C>T | NP_001341619.1:p.Ala288Val | |
| NM_001354691.3:c.620C>T | NP_001341620.1:p.Ala207Val | |
| NM_001354692.3:c.620C>T | NP_001341621.1:p.Ala207Val | |
| NM_001354693.3:c.764C>T | NP_001341622.1:p.Ala255Val | |
| NM_001354694.3:c.680C>T | NP_001341623.1:p.Ala227Val | |
| NM_001354695.3:c.521C>T | NP_001341624.1:p.Ala174Val | |
| NM_002880.4:c.863C>T MANE Select | NP_002871.1:p.Ala288Val | |
| NR_148940.3:n.1194C>T | ||
| NR_148941.3:n.1194C>T | ||
| NR_148942.3:n.1194C>T |