Linked Data
dbSNP Id:
rs751810474
ExAC:
3:180377349 G / A
gnomAD v2:
3-180377349-G-A
gnomAD v4:
3-180659561-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180659561G>A , CM000665.2:g.180659561G>A | GRCh38 |
| NC_000003.11:g.180377349G>A , CM000665.1:g.180377349G>A | GRCh37 |
| NC_000003.10:g.181860043G>A | NCBI36 |
| NG_029581.1:g.24935C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.629C>T MANE Select | ENSP00000417960.2:p.Ala210Val | |
| ENST00000650641.1:n.708C>T | ||
| ENST00000650889.1:n.801C>T | ||
| ENST00000651046.1:c.629C>T | ENSP00000499175.1:p.Ala210Val | |
| ENST00000651818.1:n.771C>T | ||
| ENST00000652024.1:n.720C>T | ||
| ENST00000652408.1:n.766C>T | ||
| ENST00000442201.6:c.629C>T | ENSP00000405708.2:p.Ala210Val | |
| ENST00000476379.5:c.629C>T | ENSP00000417960.1:p.Ala210Val | |
| NM_181426.1:c.629C>T | NP_852091.1:p.Ala210Val | |
| NM_181426.2:c.629C>T MANE Select | NP_852091.1:p.Ala210Val |