Linked Data
dbSNP Id:
rs2274907
ExAC:
1:160851826 A / T
gnomAD v2:
1-160851826-A-T
gnomAD v3:
1-160882036-A-T
gnomAD v4:
1-160882036-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160882036A>T , CM000663.2:g.160882036A>T | GRCh38 |
| NC_000001.10:g.160851826A>T , CM000663.1:g.160851826A>T | GRCh37 |
| NC_000001.9:g.159118450A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.326T>A MANE Select | ENSP00000323587.3:p.Val109Asp | |
| ENST00000326245.3:c.326T>A | ENSP00000323587.3:p.Val109Asp | |
| ENST00000464077.1:n.260T>A | ||
| NM_017625.2:c.326T>A | NP_060095.2:p.Val109Asp | |
| NM_017625.3:c.326T>A MANE Select | NP_060095.2:p.Val109Asp |