Linked Data
ClinVar Variation Id:
728992
ClinVar RCV Id:
RCV000903572
dbSNP Id:
rs141683960
ExAC:
1:158606485 C / T
gnomAD v2:
1-158606485-C-T
gnomAD v3:
1-158636695-C-T
gnomAD v4:
1-158636695-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158636695C>T , CM000663.2:g.158636695C>T | GRCh38 |
| NC_000001.10:g.158606485C>T , CM000663.1:g.158606485C>T | GRCh37 |
| NC_000001.9:g.156873109C>T | NCBI36 |
| NG_011474.1:g.55022G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.5256G>A MANE Select | ENSP00000495214.1:p.Leu1752= | |
| ENST00000368147.8:c.5256G>A | ENSP00000357129.4:p.Leu1752= | |
| ENST00000614909.4:c.5256G>A | ENSP00000482595.1:p.Leu1752= | |
| NM_003126.2:c.5256G>A | NP_003117.2:p.Leu1752= | |
| XM_011509916.1:c.5256G>A | XP_011508218.1:p.Leu1752= | |
| XM_011509917.1:c.5256G>A | XP_011508219.1:p.Leu1752= | |
| XM_011509918.1:c.5256G>A | XP_011508220.1:p.Leu1752= | |
| XM_011509919.1:c.5047G>A | XP_011508221.1:p.Glu1683Lys | |
| XR_921911.1:n.5369G>A | ||
| NM_003126.3:c.5256G>A | NP_003117.2:p.Leu1752= | |
| XM_011509916.2:c.5256G>A | XP_011508218.1:p.Leu1752= | |
| XM_011509917.3:c.5256G>A | XP_011508219.1:p.Leu1752= | |
| XM_011509918.3:c.5256G>A | XP_011508220.1:p.Leu1752= | |
| XM_011509919.3:c.5047G>A | XP_011508221.1:p.Glu1683Lys | |
| XR_921911.3:n.5382G>A | ||
| NM_003126.4:c.5256G>A MANE Select | NP_003117.2:p.Leu1752= |