Linked Data
ClinVar Variation Id:
293002
dbSNP Id:
rs116297260
ExAC:
1:158623103 G / A
gnomAD v2:
1-158623103-G-A
gnomAD v3:
1-158653313-G-A
gnomAD v4:
1-158653313-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158653313G>A , CM000663.2:g.158653313G>A | GRCh38 |
| NC_000001.10:g.158623103G>A , CM000663.1:g.158623103G>A | GRCh37 |
| NC_000001.9:g.156889727G>A | NCBI36 |
| NG_011474.1:g.38404C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.3149C>T MANE Select | ENSP00000495214.1:p.Pro1050Leu | |
| ENST00000368147.8:c.3149C>T | ENSP00000357129.4:p.Pro1050Leu | |
| ENST00000614909.4:c.3149C>T | ENSP00000482595.1:p.Pro1050Leu | |
| NM_003126.2:c.3149C>T | NP_003117.2:p.Pro1050Leu | |
| XM_011509916.1:c.3149C>T | XP_011508218.1:p.Pro1050Leu | |
| XM_011509917.1:c.3149C>T | XP_011508219.1:p.Pro1050Leu | |
| XM_011509918.1:c.3149C>T | XP_011508220.1:p.Pro1050Leu | |
| XM_011509919.1:c.3149C>T | XP_011508221.1:p.Pro1050Leu | |
| XR_921911.1:n.3262C>T | ||
| XR_921912.1:n.3267C>T | ||
| NM_003126.3:c.3149C>T | NP_003117.2:p.Pro1050Leu | |
| XM_011509916.2:c.3149C>T | XP_011508218.1:p.Pro1050Leu | |
| XM_011509917.3:c.3149C>T | XP_011508219.1:p.Pro1050Leu | |
| XM_011509918.3:c.3149C>T | XP_011508220.1:p.Pro1050Leu | |
| XM_011509919.3:c.3149C>T | XP_011508221.1:p.Pro1050Leu | |
| XR_921911.3:n.3275C>T | ||
| XR_921912.2:n.3277C>T | ||
| NM_003126.4:c.3149C>T MANE Select | NP_003117.2:p.Pro1050Leu |