Linked Data
ClinVar Variation Id:
1417557
ClinVar RCV Id:
RCV001938455
dbSNP Id:
rs767968866
ExAC:
7:151845919 C / T
gnomAD v2:
7-151845919-C-T
gnomAD v4:
7-152148834-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152148834C>T , CM000669.2:g.152148834C>T | GRCh38 |
| NC_000007.13:g.151845919C>T , CM000669.1:g.151845919C>T | GRCh37 |
| NC_000007.12:g.151476852C>T | NCBI36 |
| NG_033948.1:g.292172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682040.1:c.1281G>A | ||
| ENST00000682116.1:n.2225G>A | ||
| ENST00000682283.1:c.13264G>A | ENSP00000507485.1:p.Val4422Ile | |
| ENST00000682629.1:n.2393G>A | ||
| ENST00000683120.1:n.8285G>A | ||
| ENST00000683178.1:c.3666G>A | ||
| ENST00000683200.1:c.10603G>A | ENSP00000508052.1:p.Val3535Ile | |
| ENST00000683337.1:n.4723G>A | ||
| ENST00000683502.1:c.3738G>A | ||
| ENST00000683621.1:n.1859G>A | ||
| ENST00000683640.1:n.1809G>A | ||
| ENST00000684069.1:c.1510G>A | ENSP00000507650.1:p.Val504Ile | |
| ENST00000684261.1:c.7990G>A | ENSP00000508097.1:p.Val2664Ile | |
| ENST00000684649.1:c.3738G>A | ||
| ENST00000262189.11:c.13093G>A MANE Select | ENSP00000262189.6:p.Val4365Ile | |
| ENST00000360104.8:c.8880G>A | ||
| ENST00000418061.2:c.3735G>A | ||
| ENST00000424877.6:c.3669G>A | ||
| ENST00000679393.1:n.7804G>A | ||
| ENST00000679560.1:c.7993G>A | ENSP00000505094.1:p.Val2665Ile | |
| ENST00000679882.1:c.12658G>A | ENSP00000506154.1:p.Val4220Ile | |
| ENST00000680029.1:c.3670G>A | ||
| ENST00000680877.1:c.7993G>A | ENSP00000505724.1:p.Val2665Ile | |
| ENST00000681923.1:n.2108G>A | ||
| ENST00000262189.10:c.13093G>A | ENSP00000262189.6:p.Val4365Ile | |
| ENST00000355193.6:c.13093G>A | ENSP00000347325.3:p.Val4365Ile | |
| ENST00000360104.7:c.5774G>A | ||
| ENST00000424877.5:c.2944G>A | ENSP00000410411.1:p.Val982Ile | |
| ENST00000473186.5:n.10975G>A | ||
| ENST00000558084.5:c.*10613G>A | ENSP00000453752.1:n.*10613G>A | |
| NM_170606.2:c.13093G>A | NP_733751.2:p.Val4365Ile | |
| XM_005250025.3:c.13309G>A | XP_005250082.1:p.Val4437Ile | |
| XM_005250026.2:c.13306G>A | XP_005250083.1:p.Val4436Ile | |
| XM_005250027.3:c.13306G>A | XP_005250084.1:p.Val4436Ile | |
| XM_005250028.3:c.13309G>A | XP_005250085.1:p.Val4437Ile | |
| XM_005250031.3:c.13144G>A | XP_005250088.1:p.Val4382Ile | |
| XM_006716077.2:c.13306G>A | XP_006716140.1:p.Val4436Ile | |
| XM_006716078.2:c.13237G>A | XP_006716141.1:p.Val4413Ile | |
| XM_006716079.2:c.13141G>A | XP_006716142.1:p.Val4381Ile | |
| XM_011516450.1:c.13261G>A | XP_011514752.1:p.Val4421Ile | |
| XM_011516451.1:c.13189G>A | XP_011514753.1:p.Val4397Ile | |
| XM_011516452.1:c.13156G>A | XP_011514754.1:p.Val4386Ile | |
| XM_011516453.1:c.13072G>A | XP_011514755.1:p.Val4358Ile | |
| XM_011516454.1:c.12394G>A | XP_011514756.1:p.Val4132Ile | |
| XM_011516455.1:c.10855G>A | XP_011514757.1:p.Val3619Ile | |
| XM_011516456.1:c.13261G>A | XP_011514758.1:p.Val4421Ile | |
| XM_005250025.4:c.13309G>A | XP_005250082.1:p.Val4437Ile | |
| XM_005250026.3:c.13306G>A | XP_005250083.1:p.Val4436Ile | |
| XM_005250027.4:c.13306G>A | XP_005250084.1:p.Val4436Ile | |
| XM_005250028.4:c.13309G>A | XP_005250085.1:p.Val4437Ile | |
| XM_005250031.4:c.13144G>A | XP_005250088.1:p.Val4382Ile | |
| XM_006716077.3:c.13306G>A | XP_006716140.1:p.Val4436Ile | |
| XM_006716078.3:c.13237G>A | XP_006716141.1:p.Val4413Ile | |
| XM_006716079.3:c.13141G>A | XP_006716142.1:p.Val4381Ile | |
| XM_011516450.2:c.13261G>A | XP_011514752.1:p.Val4421Ile | |
| XM_011516451.2:c.13189G>A | XP_011514753.1:p.Val4397Ile | |
| XM_011516452.2:c.13156G>A | XP_011514754.1:p.Val4386Ile | |
| XM_011516453.2:c.13072G>A | XP_011514755.1:p.Val4358Ile | |
| XM_011516454.2:c.12394G>A | XP_011514756.1:p.Val4132Ile | |
| XM_011516456.2:c.13261G>A | XP_011514758.1:p.Val4421Ile | |
| XM_017012480.1:c.13309G>A | XP_016867969.1:p.Val4437Ile | |
| XM_017012481.1:c.13306G>A | XP_016867970.1:p.Val4436Ile | |
| XM_017012482.1:c.13306G>A | XP_016867971.1:p.Val4436Ile | |
| XM_017012483.1:c.13306G>A | XP_016867972.1:p.Val4436Ile | |
| XM_017012484.1:c.13276G>A | XP_016867973.1:p.Val4426Ile | |
| XM_017012485.1:c.13258G>A | XP_016867974.1:p.Val4420Ile | |
| XM_017012486.1:c.13234G>A | XP_016867975.1:p.Val4412Ile | |
| XM_017012487.1:c.13162G>A | XP_016867976.1:p.Val4388Ile | |
| XM_017012488.1:c.13126G>A | XP_016867977.1:p.Val4376Ile | |
| XM_017012489.1:c.9979G>A | XP_016867978.1:p.Val3327Ile | |
| XM_017012490.2:c.9583G>A | XP_016867979.1:p.Val3195Ile | |
| XM_024446852.1:c.13306G>A | XP_024302620.1:p.Val4436Ile | |
| XM_024446853.1:c.13234G>A | XP_024302621.1:p.Val4412Ile | |
| NM_170606.3:c.13093G>A MANE Select | NP_733751.2:p.Val4365Ile |