Linked Data
ClinVar Variation Id:
1744317
dbSNP Id:
rs370067953
ExAC:
19:41930364 G / A
gnomAD v2:
19-41930364-G-A
gnomAD v3:
19-41424459-G-A
gnomAD v4:
19-41424459-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424459G>A , CM000681.2:g.41424459G>A | GRCh38 |
| NC_000019.9:g.41930364G>A , CM000681.1:g.41930364G>A | GRCh37 |
| NC_000019.8:g.46622204G>A | NCBI36 |
| NG_013004.1:g.31671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1189G>A MANE Select | ENSP00000269980.2:p.Ala397Thr | |
| ENST00000269980.6:c.1189G>A | ENSP00000269980.2:p.Ala397Thr | |
| ENST00000457836.6:c.1198G>A | ENSP00000416000.2:p.Ala400Thr | |
| ENST00000540732.3:c.1291G>A | ENSP00000443246.1:p.Ala431Thr | |
| ENST00000544905.1:c.62-43G>A | ||
| ENST00000595085.5:c.922+1762G>A | ENSP00000471150.2:n.922+1762G>A | |
| NM_000709.3:c.1189G>A | NP_000700.1:p.Ala397Thr | |
| NM_001164783.1:c.1186G>A | NP_001158255.1:p.Ala396Thr | |
| NM_000709.4:c.1189G>A MANE Select | NP_000700.1:p.Ala397Thr | |
| NM_001164783.2:c.1186G>A | NP_001158255.1:p.Ala396Thr |