Linked Data
ClinVar Variation Id:
2900515
ClinVar RCV Id:
RCV003737175
dbSNP Id:
rs778353358
ExAC:
11:118963677 C / T
gnomAD v2:
11-118963677-C-T
gnomAD v3:
11-119092967-C-T
gnomAD v4:
11-119092967-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092967C>T , CM000673.2:g.119092967C>T | GRCh38 |
| NC_000011.9:g.118963677C>T , CM000673.1:g.118963677C>T | GRCh37 |
| NC_000011.8:g.118468887C>T | NCBI36 |
| NG_008093.1:g.13091C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.693C>T | ENSP00000509288.1:p.Asp231= | |
| ENST00000691144.1:n.3073C>T | ||
| ENST00000691249.1:n.1682C>T | ||
| ENST00000442944.7:c.840C>T | ENSP00000392041.3:p.Asp280= | |
| ENST00000640813.1:c.*95C>T | ENSP00000491061.1:n.*95C>T | |
| ENST00000648026.1:c.752C>T | ENSP00000498044.1:n.752C>T | |
| ENST00000648374.1:c.807C>T | ENSP00000497255.1:p.Asp269= | |
| ENST00000650101.1:c.789C>T | ENSP00000496970.1:p.Asp263= | |
| ENST00000650307.1:n.1684C>T | ||
| ENST00000652429.1:c.858C>T MANE Select | ENSP00000498786.1:p.Asp286= | |
| ENST00000278715.7:c.858C>T | ENSP00000278715.3:p.Asp286= | |
| ENST00000392841.1:c.807C>T | ENSP00000376584.1:p.Asp269= | |
| ENST00000442944.6:c.807C>T | ENSP00000392041.2:p.Asp269= | |
| ENST00000537841.5:c.807C>T | ENSP00000444730.1:p.Asp269= | |
| ENST00000539045.1:n.357C>T | ||
| ENST00000542044.5:n.1303C>T | ||
| ENST00000542729.5:c.687C>T | ENSP00000443058.1:p.Asp229= | |
| ENST00000543090.5:c.765C>T | ENSP00000445429.1:p.Asp255= | |
| ENST00000543543.5:n.1333C>T | ||
| ENST00000544182.1:n.1307C>T | ||
| ENST00000544387.5:c.738C>T | ENSP00000438424.1:p.Asp246= | |
| ENST00000546226.5:n.1620C>T | ||
| NM_000190.3:c.858C>T | NP_000181.2:p.Asp286= | |
| NM_001024382.1:c.807C>T | NP_001019553.1:p.Asp269= | |
| NM_001258208.1:c.738C>T | NP_001245137.1:p.Asp246= | |
| NM_001258209.1:c.687C>T | NP_001245138.1:p.Asp229= | |
| XM_005271531.1:c.807C>T | XP_005271588.1:p.Asp269= | |
| XM_005271532.1:c.807C>T | XP_005271589.1:p.Asp269= | |
| XM_005271533.2:c.804C>T | XP_005271590.1:p.Asp268= | |
| XM_011542796.1:c.693C>T | XP_011541098.1:p.Asp231= | |
| NM_000190.4:c.858C>T MANE Select | NP_000181.2:p.Asp286= | |
| NM_001024382.2:c.807C>T | NP_001019553.1:p.Asp269= | |
| XM_005271533.3:c.804C>T | XP_005271590.1:p.Asp268= | |
| XM_017017629.1:c.807C>T | XP_016873118.1:p.Asp269= | |
| XM_024448460.1:c.684C>T | XP_024304228.1:p.Asp228= | |
| NM_001258208.2:c.738C>T | NP_001245137.1:p.Asp246= | |
| NM_001258209.2:c.687C>T | NP_001245138.1:p.Asp229= |