Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66020590G>T , CM000673.2:g.66020590G>T | GRCh38 |
| NC_000011.9:g.65788061G>T , CM000673.1:g.65788061G>T | GRCh37 |
| NC_000011.8:g.65544637G>T | NCBI36 |
| NG_016285.1:g.10928C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053054.4:c.1965C>A MANE Select | NP_444282.3:p.Ile655= |
| ENST00000312106.6:c.1965C>A MANE Select | ENSP00000309052.5:p.Ile655= |
| NM_053054.3:c.1965C>A | NP_444282.3:p.Ile655= |
| ENST00000312106.5:c.1965C>A | ENSP00000309052.5:p.Ile655= |
| ENST00000529244.1:n.265+221C>A | |
| XR_002957121.1:n.2066-201C>A | |
| XR_002957122.1:n.2020-201C>A | |
| XR_949785.1:n.2105C>A | |
| XR_949785.2:n.2103C>A | |
| XR_949786.1:n.2068-201C>A | |
| XR_949787.1:n.2058C>A | |
| XR_949787.2:n.2057C>A |