Linked Data
ClinVar Variation Id:
574168
dbSNP Id:
rs369825113
ExAC:
19:50333196 G / A
gnomAD v2:
19-50333196-G-A
gnomAD v3:
19-49829939-G-A
gnomAD v4:
19-49829939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49829939G>A , CM000681.2:g.49829939G>A | GRCh38 |
| NC_000019.9:g.50333196G>A , CM000681.1:g.50333196G>A | GRCh37 |
| NC_000019.8:g.55025008G>A | NCBI36 |
| NG_017091.1:g.16661G>A , LRG_368:g.16661G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.679G>A | ENSP00000470692.3:p.Val227Met | |
| ENST00000312865.10:c.679G>A MANE Select | ENSP00000326767.5:p.Val227Met | |
| ENST00000538643.5:c.181-572G>A | ENSP00000437496.1:n.181-572G>A | |
| ENST00000595185.5:c.679G>A | ENSP00000470027.1:p.Val227Met | |
| ENST00000612791.4:c.677G>A | ENSP00000479851.1:p.Arg226His | |
| ENST00000612854.4:c.450+924G>A | ENSP00000482155.1:n.450+924G>A | |
| ENST00000617849.4:c.158-800G>A | ENSP00000484882.1:n.158-800G>A | |
| ENST00000618715.4:c.158-799G>A | ENSP00000480731.1:n.158-799G>A | |
| ENST00000620467.4:c.679G>A | ENSP00000482659.1:p.Val227Met | |
| ENST00000622402.4:c.146-5888G>A | ENSP00000478074.1:n.146-5888G>A | |
| NM_030973.3:c.679G>A , LRG_368t1:c.679G>A | NP_112235.2:p.Val227Met | |
| XM_011527353.1:c.679G>A | XP_011525655.1:p.Val227Met | |
| NM_001378355.1:c.679G>A | NP_001365284.1:p.Val227Met | |
| NM_030973.4:c.679G>A MANE Select | NP_112235.2:p.Val227Met |