Linked Data
ClinVar Variation Id:
874283
dbSNP Id:
rs1276965909
gnomAD v2:
1-68910314-G-A
gnomAD v4:
1-68444631-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68444631G>A , CM000663.2:g.68444631G>A | GRCh38 |
| NC_000001.10:g.68910314G>A , CM000663.1:g.68910314G>A | GRCh37 |
| NC_000001.9:g.68682902G>A | NCBI36 |
| NG_008472.1:g.10329C>T | |
| NG_008472.2:g.10329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.395C>T MANE Select | ENSP00000262340.5:p.Ala132Val | |
| ENST00000262340.5:c.395C>T | ENSP00000262340.5:p.Ala132Val | |
| NM_000329.2:c.395C>T | NP_000320.1:p.Ala132Val | |
| XM_017002027.1:c.119C>T | XP_016857516.1:p.Ala40Val | |
| NM_000329.3:c.395C>T MANE Select | NP_000320.1:p.Ala132Val |