Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66022866T>G , CM000673.2:g.66022866T>G | GRCh38 |
| NC_000011.9:g.65790337T>G , CM000673.1:g.65790337T>G | GRCh37 |
| NC_000011.8:g.65546913T>G | NCBI36 |
| NG_016285.1:g.8652A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_053054.4:c.1412A>C MANE Select | NP_444282.3:p.Glu471Ala |
| ENST00000312106.6:c.1412A>C MANE Select | ENSP00000309052.5:p.Glu471Ala |
| NM_053054.3:c.1412A>C | NP_444282.3:p.Glu471Ala |
| ENST00000312106.5:c.1412A>C | ENSP00000309052.5:p.Glu471Ala |
| XR_002957121.1:n.1550A>C | |
| XR_002957122.1:n.1551A>C | |
| XR_949785.1:n.1552A>C | |
| XR_949785.2:n.1550A>C | |
| XR_949786.1:n.1552A>C | |
| XR_949787.1:n.1552A>C | |
| XR_949787.2:n.1551A>C |