Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66025978C>T , CM000673.2:g.66025978C>T | GRCh38 |
| NC_000011.9:g.65793449C>T , CM000673.1:g.65793449C>T | GRCh37 |
| NC_000011.8:g.65550025C>T | NCBI36 |
| NG_016285.1:g.5540G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053054.4:c.402G>A MANE Select | NP_444282.3:p.Gly134= |
| ENST00000312106.6:c.402G>A MANE Select | ENSP00000309052.5:p.Gly134= |
| NM_053054.3:c.402G>A | NP_444282.3:p.Gly134= |
| ENST00000312106.5:c.402G>A | ENSP00000309052.5:p.Gly134= |
| XR_002957121.1:n.540G>A | |
| XR_002957122.1:n.541G>A | |
| XR_949785.1:n.542G>A | |
| XR_949785.2:n.540G>A | |
| XR_949786.1:n.542G>A | |
| XR_949787.1:n.542G>A | |
| XR_949787.2:n.541G>A |