Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183023890C>T , CM000663.2:g.183023890C>T | GRCh38 |
| NC_000001.10:g.182993025C>T , CM000663.1:g.182993025C>T | GRCh37 |
| NC_000001.9:g.181259648C>T | NCBI36 |
| NG_011463.1:g.5431C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258341.5:c.174C>T MANE Select | ENSP00000258341.3:p.Ala58= | |
| ENST00000258341.4:c.174C>T | ENSP00000258341.3:p.Ala58= | |
| NM_002293.3:c.174C>T | NP_002284.3:p.Ala58= | |
| NM_002293.4:c.174C>T MANE Select | NP_002284.3:p.Ala58= |