Linked Data
ClinVar Variation Id:
2908326
ClinVar RCV Id:
RCV003729723
dbSNP Id:
rs367688778
ExAC:
1:158592962 C / A
gnomAD v2:
1-158592962-C-A
gnomAD v3:
1-158623172-C-A
gnomAD v4:
1-158623172-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158623172C>A , CM000663.2:g.158623172C>A | GRCh38 |
| NC_000001.10:g.158592962C>A , CM000663.1:g.158592962C>A | GRCh37 |
| NC_000001.9:g.156859586C>A | NCBI36 |
| NG_011474.1:g.68545G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.5931G>T MANE Select | ENSP00000495214.1:p.Leu1977= | |
| ENST00000368147.8:c.5931G>T | ENSP00000357129.4:p.Leu1977= | |
| ENST00000461624.1:n.477G>T | ||
| ENST00000614909.4:c.5931G>T | ENSP00000482595.1:p.Leu1977= | |
| NM_003126.2:c.5931G>T | NP_003117.2:p.Leu1977= | |
| XM_011509916.1:c.5931G>T | XP_011508218.1:p.Leu1977= | |
| XM_011509917.1:c.5931G>T | XP_011508219.1:p.Leu1977= | |
| XM_011509918.1:c.5931G>T | XP_011508220.1:p.Leu1977= | |
| XR_921911.1:n.5776G>T | ||
| NM_003126.3:c.5931G>T | NP_003117.2:p.Leu1977= | |
| XM_011509916.2:c.5931G>T | XP_011508218.1:p.Leu1977= | |
| XM_011509917.3:c.5931G>T | XP_011508219.1:p.Leu1977= | |
| XM_011509918.3:c.5931G>T | XP_011508220.1:p.Leu1977= | |
| XR_921911.3:n.5789G>T | ||
| NM_003126.4:c.5931G>T MANE Select | NP_003117.2:p.Leu1977= |