Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52791216C>T , CM000674.2:g.52791216C>T | GRCh38 |
| NC_000012.11:g.53185000C>T , CM000674.1:g.53185000C>T | GRCh37 |
| NC_000012.10:g.51471267C>T | NCBI36 |
| NG_008350.1:g.9893G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_057088.3:c.1525G>A MANE Select | NP_476429.2:p.Glu509Lys |
| ENST00000417996.2:c.1525G>A MANE Select | ENSP00000413479.2:p.Glu509Lys |
| NM_057088.2:c.1525G>A | NP_476429.2:p.Glu509Lys |
| XM_011538324.1:c.1165G>A | XP_011536626.1:p.Glu389Lys |
| XM_024448975.1:c.1789G>A | XP_024304743.1:p.Glu597Lys |