Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145059G>T , CM000670.2:g.96145059G>T | GRCh38 |
| NC_000008.10:g.97157287G>T , CM000670.1:g.97157287G>T | GRCh37 |
| NC_000008.9:g.97226463G>T | NCBI36 |
| NG_008981.1:g.20734C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.872C>A MANE Select | ENSP00000287020.4:p.Ala291Glu | |
| ENST00000287020.6:c.872C>A | ENSP00000287020.4:p.Ala291Glu | |
| ENST00000620978.1:c.793+17C>A | ENSP00000480170.1:n.793+17C>A | |
| ENST00000621429.1:c.872C>A | ENSP00000483711.1:p.Ala291Glu | |
| NM_001001557.2:c.872C>A | NP_001001557.1:p.Ala291Glu | |
| XM_011517030.1:c.473C>A | XP_011515332.1:p.Ala158Glu | |
| NM_001001557.3:c.872C>A | NP_001001557.1:p.Ala291Glu | |
| NM_001001557.4:c.872C>A MANE Select | NP_001001557.1:p.Ala291Glu |