Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66017353T>A , CM000673.2:g.66017353T>A | GRCh38 |
| NC_000011.9:g.65784824T>A , CM000673.1:g.65784824T>A | GRCh37 |
| NC_000011.8:g.65541400T>A | NCBI36 |
| NG_016285.1:g.14165A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053054.4:c.2202-179A>T MANE Select | NP_444282.3:n.2202-179A>T |
| ENST00000312106.6:c.2202-179A>T MANE Select | ENSP00000309052.5:n.2202-179A>T |
| NM_053054.3:c.2202-179A>T | NP_444282.3:n.2202-179A>T |
| ENST00000312106.5:c.2202-179A>T | ENSP00000309052.5:n.2202-179A>T |
| ENST00000529244.1:n.442-179A>T | |
| XR_002957121.1:n.2315-179A>T | |
| XR_002957122.1:n.2269-179A>T | |
| XR_949785.1:n.2381-179A>T | |
| XR_949785.2:n.2379-179A>T | |
| XR_949787.1:n.2295-179A>T | |
| XR_949787.2:n.2294-179A>T |