Linked Data
ClinVar Variation Id:
1958910
ClinVar RCV Id:
RCV002725702
dbSNP Id:
rs770760881
ExAC:
11:118963182 T / C
gnomAD v2:
11-118963182-T-C
gnomAD v3:
11-119092472-T-C
gnomAD v4:
11-119092472-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092472T>C , CM000673.2:g.119092472T>C | GRCh38 |
| NC_000011.9:g.118963182T>C , CM000673.1:g.118963182T>C | GRCh37 |
| NC_000011.8:g.118468392T>C | NCBI36 |
| NG_008093.1:g.12596T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.555T>C | ENSP00000509288.1:p.Asp185= | |
| ENST00000691144.1:n.2701T>C | ||
| ENST00000691249.1:n.1544T>C | ||
| ENST00000442944.7:c.702T>C | ENSP00000392041.3:p.Asp234= | |
| ENST00000536813.6:c.669T>C | ENSP00000438726.2:p.Asp223= | |
| ENST00000640813.1:c.530T>C | ENSP00000491061.1:p.Ile177Thr | |
| ENST00000648026.1:c.614T>C | ENSP00000498044.1:p.Ile205Thr | |
| ENST00000648374.1:c.669T>C | ENSP00000497255.1:p.Asp223= | |
| ENST00000649823.1:n.1177T>C | ||
| ENST00000650101.1:c.651T>C | ENSP00000496970.1:p.Asp217= | |
| ENST00000650307.1:n.1546T>C | ||
| ENST00000652429.1:c.720T>C MANE Select | ENSP00000498786.1:p.Asp240= | |
| ENST00000278715.7:c.720T>C | ENSP00000278715.3:p.Asp240= | |
| ENST00000392841.1:c.669T>C | ENSP00000376584.1:p.Asp223= | |
| ENST00000442944.6:c.669T>C | ENSP00000392041.2:p.Asp223= | |
| ENST00000537841.5:c.669T>C | ENSP00000444730.1:p.Asp223= | |
| ENST00000542044.5:n.1165T>C | ||
| ENST00000542729.5:c.601-286T>C | ENSP00000443058.1:n.601-286T>C | |
| ENST00000543090.5:c.627T>C | ENSP00000445429.1:p.Asp209= | |
| ENST00000543543.5:n.1195T>C | ||
| ENST00000544182.1:n.935T>C | ||
| ENST00000544387.5:c.652-286T>C | ENSP00000438424.1:n.652-286T>C | |
| ENST00000545621.5:c.*855T>C | ENSP00000444849.1:n.*855T>C | |
| ENST00000546226.5:n.1248T>C | ||
| NM_000190.3:c.720T>C | NP_000181.2:p.Asp240= | |
| NM_001024382.1:c.669T>C | NP_001019553.1:p.Asp223= | |
| NM_001258208.1:c.652-286T>C | NP_001245137.1:n.652-286T>C | |
| NM_001258209.1:c.601-286T>C | NP_001245138.1:n.601-286T>C | |
| XM_005271531.1:c.669T>C | XP_005271588.1:p.Asp223= | |
| XM_005271532.1:c.669T>C | XP_005271589.1:p.Asp223= | |
| XM_005271533.2:c.666T>C | XP_005271590.1:p.Asp222= | |
| XM_011542796.1:c.555T>C | XP_011541098.1:p.Asp185= | |
| NM_000190.4:c.720T>C MANE Select | NP_000181.2:p.Asp240= | |
| NM_001024382.2:c.669T>C | NP_001019553.1:p.Asp223= | |
| XM_005271533.3:c.666T>C | XP_005271590.1:p.Asp222= | |
| XM_017017629.1:c.669T>C | XP_016873118.1:p.Asp223= | |
| XM_024448460.1:c.598-286T>C | XP_024304228.1:n.598-286T>C | |
| NM_001258208.2:c.652-286T>C | NP_001245137.1:n.652-286T>C | |
| NM_001258209.2:c.601-286T>C | NP_001245138.1:n.601-286T>C |