Linked Data
dbSNP Id:
rs118204002
ExAC:
10:82045273 G / A
gnomAD v2:
10-82045273-G-A
gnomAD v4:
10-80285517-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80285517G>A , CM000672.2:g.80285517G>A | GRCh38 |
| NC_000010.10:g.82045273G>A , CM000672.1:g.82045273G>A | GRCh37 |
| NC_000010.9:g.82035253G>A | NCBI36 |
| NG_008083.1:g.9162C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372213.8:c.164C>T MANE Select | ENSP00000361287.3:p.Ala55Val | |
| ENST00000372213.7:c.164C>T | ENSP00000361287.3:p.Ala55Val | |
| ENST00000455001.1:c.98C>T | ENSP00000414961.1:p.Ala33Val | |
| NM_000429.2:c.164C>T | NP_000420.1:p.Ala55Val | |
| XM_005269842.3:c.164C>T | XP_005269899.1:p.Ala55Val | |
| XM_005269843.3:c.164C>T | XP_005269900.1:p.Ala55Val | |
| NM_000429.3:c.164C>T MANE Select | NP_000420.1:p.Ala55Val |