Linked Data
ClinVar Variation Id:
507704
dbSNP Id:
rs1451849309
gnomAD v2:
3-12641696-T-C
gnomAD v3:
3-12600197-T-C
gnomAD v4:
3-12600197-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12600197T>C , CM000665.2:g.12600197T>C | GRCh38 |
| NC_000003.11:g.12641696T>C , CM000665.1:g.12641696T>C | GRCh37 |
| NC_000003.10:g.12616696T>C | NCBI36 |
| NG_007467.1:g.68983A>G , LRG_413:g.68983A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*610A>G | ENSP00000401088.1:n.*610A>G | |
| ENST00000432427.3:c.265A>G | ||
| ENST00000465826.6:n.536A>G | ||
| ENST00000491290.2:n.1322A>G | ||
| ENST00000684903.1:c.*622A>G | ENSP00000508612.1:n.*622A>G | |
| ENST00000685348.1:c.*622A>G | ENSP00000510285.1:n.*622A>G | |
| ENST00000685437.1:c.846A>G | ENSP00000508794.1:p.Gln282= | |
| ENST00000685653.1:c.945A>G | ENSP00000509968.1:p.Gln315= | |
| ENST00000685738.1:c.945A>G | ENSP00000510156.1:p.Gln315= | |
| ENST00000686409.1:n.1653A>G | ||
| ENST00000686455.1:n.1308A>G | ||
| ENST00000686479.1:n.1316A>G | ||
| ENST00000686762.1:c.945A>G | ENSP00000509767.1:p.Gln315= | |
| ENST00000687257.1:n.1181A>G | ||
| ENST00000687326.1:c.945A>G | ENSP00000509665.1:p.Gln315= | |
| ENST00000687486.1:c.182+191A>G | ||
| ENST00000687505.1:n.1063A>G | ||
| ENST00000687923.1:c.846A>G | ENSP00000510255.1:p.Gln282= | |
| ENST00000687940.1:n.1322A>G | ||
| ENST00000688269.1:n.1541A>G | ||
| ENST00000688326.1:c.265A>G | ||
| ENST00000688444.1:n.1271A>G | ||
| ENST00000688543.1:c.846A>G | ENSP00000509612.1:p.Gln282= | |
| ENST00000688625.1:c.*523A>G | ENSP00000509522.1:n.*523A>G | |
| ENST00000688803.1:n.1176A>G | ||
| ENST00000689097.1:c.*622A>G | ENSP00000509756.1:n.*622A>G | |
| ENST00000689389.1:c.945A>G | ENSP00000510213.1:p.Gln315= | |
| ENST00000689418.1:c.*622A>G | ENSP00000509467.1:n.*622A>G | |
| ENST00000689481.1:c.*622A>G | ENSP00000510248.1:n.*622A>G | |
| ENST00000689540.1:n.1095A>G | ||
| ENST00000689876.1:c.945A>G | ENSP00000508535.1:p.Gln315= | |
| ENST00000689914.1:c.945A>G | ENSP00000509847.1:p.Gln315= | |
| ENST00000690397.1:c.834A>G | ENSP00000508730.1:p.Gln278= | |
| ENST00000690460.1:c.933A>G | ENSP00000509106.1:p.Gln311= | |
| ENST00000690625.1:n.1248A>G | ||
| ENST00000691268.1:c.372A>G | ||
| ENST00000691396.1:c.*738A>G | ENSP00000510712.1:n.*738A>G | |
| ENST00000691724.1:c.945A>G | ENSP00000509255.1:p.Gln315= | |
| ENST00000691779.1:c.*523A>G | ENSP00000508592.1:n.*523A>G | |
| ENST00000691899.1:c.945A>G | ENSP00000508763.1:p.Gln315= | |
| ENST00000692069.1:n.1168A>G | ||
| ENST00000692093.1:c.846A>G | ENSP00000509669.1:p.Gln282= | |
| ENST00000692311.1:n.1426A>G | ||
| ENST00000692558.1:n.1310A>G | ||
| ENST00000692773.1:c.*682A>G | ENSP00000509055.1:n.*682A>G | |
| ENST00000692830.1:c.*690A>G | ENSP00000509461.1:n.*690A>G | |
| ENST00000693069.1:c.846A>G | ENSP00000510072.1:p.Gln282= | |
| ENST00000693312.1:c.720A>G | ENSP00000508686.1:p.Gln240= | |
| ENST00000693664.1:c.945A>G | ENSP00000509614.1:p.Gln315= | |
| ENST00000693705.1:c.*622A>G | ENSP00000510697.1:n.*622A>G | |
| ENST00000251849.9:c.945A>G MANE Select | ENSP00000251849.4:p.Gln315= | |
| ENST00000442415.7:c.1005A>G | ENSP00000401888.2:p.Gln335= | |
| ENST00000251849.8:c.945A>G | ENSP00000251849.4:p.Gln315= | |
| ENST00000423275.5:c.*622A>G | ENSP00000401088.1:n.*622A>G | |
| ENST00000432427.2:c.582A>G | ENSP00000398591.2:p.Gln194= | |
| ENST00000442415.6:c.1005A>G | ENSP00000401888.2:p.Gln335= | |
| ENST00000465826.5:n.189A>G | ||
| NM_002880.3:c.945A>G , LRG_413t1:c.945A>G | NP_002871.1:p.Gln315= | |
| XM_005265355.1:c.945A>G | XP_005265412.1:p.Gln315= | |
| XM_005265357.1:c.846A>G | XP_005265414.1:p.Gln282= | |
| XM_005265358.3:c.702A>G | XP_005265415.1:p.Gln234= | |
| XM_005265359.3:c.603A>G | XP_005265416.1:p.Gln201= | |
| XM_005265360.1:c.945A>G | XP_005265417.1:p.Gln315= | |
| XM_011533974.1:c.945A>G | XP_011532276.1:p.Gln315= | |
| XM_011533975.1:c.702A>G | XP_011532277.1:p.Gln234= | |
| NM_001354689.1:c.1005A>G | NP_001341618.1:p.Gln335= | |
| NM_001354690.1:c.945A>G | NP_001341619.1:p.Gln315= | |
| NM_001354691.1:c.702A>G | NP_001341620.1:p.Gln234= | |
| NM_001354692.1:c.702A>G | NP_001341621.1:p.Gln234= | |
| NM_001354693.1:c.846A>G | NP_001341622.1:p.Gln282= | |
| NM_001354694.1:c.762A>G | NP_001341623.1:p.Gln254= | |
| NM_001354695.1:c.603A>G | NP_001341624.1:p.Gln201= | |
| NR_148940.1:n.1360A>G | ||
| NR_148941.1:n.1360A>G | ||
| NR_148942.1:n.1360A>G | ||
| XM_011533974.3:c.945A>G | XP_011532276.1:p.Gln315= | |
| XM_017006966.1:c.846A>G | XP_016862455.1:p.Gln282= | |
| XR_001740227.1:n.1177A>G | ||
| NM_001354689.3:c.1005A>G | NP_001341618.1:p.Gln335= | |
| NM_001354690.2:c.945A>G | NP_001341619.1:p.Gln315= | |
| NM_001354691.2:c.702A>G | NP_001341620.1:p.Gln234= | |
| NM_001354692.2:c.702A>G | NP_001341621.1:p.Gln234= | |
| NM_001354693.2:c.846A>G | NP_001341622.1:p.Gln282= | |
| NM_001354694.2:c.762A>G | NP_001341623.1:p.Gln254= | |
| NM_001354695.2:c.603A>G | NP_001341624.1:p.Gln201= | |
| NR_148940.2:n.1276A>G | ||
| NR_148941.2:n.1276A>G | ||
| NR_148942.2:n.1276A>G | ||
| NM_001354690.3:c.945A>G | NP_001341619.1:p.Gln315= | |
| NM_001354691.3:c.702A>G | NP_001341620.1:p.Gln234= | |
| NM_001354692.3:c.702A>G | NP_001341621.1:p.Gln234= | |
| NM_001354693.3:c.846A>G | NP_001341622.1:p.Gln282= | |
| NM_001354694.3:c.762A>G | NP_001341623.1:p.Gln254= | |
| NM_001354695.3:c.603A>G | NP_001341624.1:p.Gln201= | |
| NM_002880.4:c.945A>G MANE Select | NP_002871.1:p.Gln315= | |
| NR_148940.3:n.1276A>G | ||
| NR_148941.3:n.1276A>G | ||
| NR_148942.3:n.1276A>G |