Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66020943C>T , CM000673.2:g.66020943C>T | GRCh38 |
| NC_000011.9:g.65788414C>T , CM000673.1:g.65788414C>T | GRCh37 |
| NC_000011.8:g.65544990C>T | NCBI36 |
| NG_016285.1:g.10575G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053054.4:c.1795G>A MANE Select | NP_444282.3:p.Ala599Thr |
| ENST00000312106.6:c.1795G>A MANE Select | ENSP00000309052.5:p.Ala599Thr |
| NM_053054.3:c.1795G>A | NP_444282.3:p.Ala599Thr |
| ENST00000312106.5:c.1795G>A | ENSP00000309052.5:p.Ala599Thr |
| ENST00000529244.1:n.133G>A | |
| XR_002957121.1:n.1933G>A | |
| XR_002957122.1:n.1887G>A | |
| XR_949785.1:n.1935G>A | |
| XR_949785.2:n.1933G>A | |
| XR_949786.1:n.1935G>A | |
| XR_949787.1:n.1888G>A | |
| XR_949787.2:n.1887G>A |