Linked Data
ClinVar Variation Id:
2985489
ClinVar RCV Id:
RCV003848616
dbSNP Id:
rs374148915
ExAC:
11:118963749 C / A
gnomAD v2:
11-118963749-C-A
gnomAD v4:
11-119093039-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093039C>A , CM000673.2:g.119093039C>A | GRCh38 |
| NC_000011.9:g.118963749C>A , CM000673.1:g.118963749C>A | GRCh37 |
| NC_000011.8:g.118468959C>A | NCBI36 |
| NG_008093.1:g.13163C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.747+18C>A | ENSP00000509288.1:n.747+18C>A | |
| ENST00000691144.1:n.3127+18C>A | ||
| ENST00000691249.1:n.1736+18C>A | ||
| ENST00000442944.7:c.894+18C>A | ENSP00000392041.3:n.894+18C>A | |
| ENST00000640813.1:c.*149+18C>A | ENSP00000491061.1:n.*149+18C>A | |
| ENST00000648026.1:c.806+18C>A | ENSP00000498044.1:n.806+18C>A | |
| ENST00000648374.1:c.861+18C>A | ENSP00000497255.1:n.861+18C>A | |
| ENST00000650101.1:c.843+18C>A | ENSP00000496970.1:n.843+18C>A | |
| ENST00000650307.1:n.1738+18C>A | ||
| ENST00000652429.1:c.912+18C>A MANE Select | ENSP00000498786.1:n.912+18C>A | |
| ENST00000278715.7:c.912+18C>A | ENSP00000278715.3:n.912+18C>A | |
| ENST00000392841.1:c.861+18C>A | ENSP00000376584.1:n.861+18C>A | |
| ENST00000442944.6:c.861+18C>A | ENSP00000392041.2:n.861+18C>A | |
| ENST00000537841.5:c.861+18C>A | ENSP00000444730.1:n.861+18C>A | |
| ENST00000539045.1:n.411+18C>A | ||
| ENST00000542044.5:n.1357+18C>A | ||
| ENST00000542729.5:c.741+18C>A | ENSP00000443058.1:n.741+18C>A | |
| ENST00000543090.5:c.819+18C>A | ENSP00000445429.1:n.819+18C>A | |
| ENST00000543543.5:n.1387+18C>A | ||
| ENST00000544182.1:n.1361+18C>A | ||
| ENST00000544387.5:c.792+18C>A | ENSP00000438424.1:n.792+18C>A | |
| ENST00000546226.5:n.1674+18C>A | ||
| NM_000190.3:c.912+18C>A | NP_000181.2:n.912+18C>A | |
| NM_001024382.1:c.861+18C>A | NP_001019553.1:n.861+18C>A | |
| NM_001258208.1:c.792+18C>A | NP_001245137.1:n.792+18C>A | |
| NM_001258209.1:c.741+18C>A | NP_001245138.1:n.741+18C>A | |
| XM_005271531.1:c.861+18C>A | XP_005271588.1:n.861+18C>A | |
| XM_005271532.1:c.861+18C>A | XP_005271589.1:n.861+18C>A | |
| XM_005271533.2:c.858+18C>A | XP_005271590.1:n.858+18C>A | |
| XM_011542796.1:c.747+18C>A | XP_011541098.1:n.747+18C>A | |
| NM_000190.4:c.912+18C>A MANE Select | NP_000181.2:n.912+18C>A | |
| NM_001024382.2:c.861+18C>A | NP_001019553.1:n.861+18C>A | |
| XM_005271533.3:c.858+18C>A | XP_005271590.1:n.858+18C>A | |
| XM_017017629.1:c.861+18C>A | XP_016873118.1:n.861+18C>A | |
| XM_024448460.1:c.738+18C>A | XP_024304228.1:n.738+18C>A | |
| NM_001258208.2:c.792+18C>A | NP_001245137.1:n.792+18C>A | |
| NM_001258209.2:c.741+18C>A | NP_001245138.1:n.741+18C>A |