Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67053960C>A , CM000663.2:g.67053960C>A | GRCh38 |
| NC_000001.10:g.67519643C>A , CM000663.1:g.67519643C>A | GRCh37 |
| NC_000001.9:g.67292231C>A | NCBI36 |
| NG_012933.1:g.5438G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.54G>T MANE Select | ENSP00000235345.5:p.Ala18= | |
| ENST00000235345.5:c.54G>T | ENSP00000235345.5:p.Ala18= | |
| NM_015139.2:c.54G>T | NP_055954.1:p.Ala18= | |
| XM_006710478.1:c.54G>T | XP_006710541.1:p.Ala18= | |
| XM_011541070.1:c.54G>T | XP_011539372.1:p.Ala18= | |
| XM_006710478.2:c.54G>T | XP_006710541.1:p.Ala18= | |
| XM_011541070.2:c.54G>T | XP_011539372.1:p.Ala18= | |
| XR_001737057.2:n.464G>T | ||
| XR_001737058.2:n.457G>T | ||
| NM_015139.3:c.54G>T MANE Select | NP_055954.1:p.Ala18= |