Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83648538G>A , CM000669.2:g.83648538G>A | GRCh38 |
| NC_000007.13:g.83277854G>A , CM000669.1:g.83277854G>A | GRCh37 |
| NC_000007.12:g.83115790G>A | NCBI36 |
| NG_021242.1:g.5626C>T | |
| NG_021242.2:g.5626C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453333.2:c.5C>T | ENSP00000415184.1:p.Ala2Val | |
| ENST00000642232.1:c.5C>T | ENSP00000494064.1:p.Ala2Val | |
| ENST00000643230.2:c.5C>T MANE Select | ENSP00000496491.1:p.Ala2Val | |
| ENST00000307792.7:c.5C>T | ENSP00000303212.3:p.Ala2Val | |
| ENST00000453333.1:c.5C>T | ENSP00000415184.1:p.Ala2Val | |
| NM_012431.2:c.5C>T | NP_036563.1:p.Ala2Val | |
| XM_011516715.1:c.5C>T | XP_011515017.1:p.Ala2Val | |
| NM_012431.3:c.5C>T MANE Select | NP_036563.1:p.Ala2Val |