Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96160474G>T , CM000670.2:g.96160474G>T | GRCh38 |
| NC_000008.10:g.97172702G>T , CM000670.1:g.97172702G>T | GRCh37 |
| NC_000008.9:g.97241878G>T | NCBI36 |
| NG_008981.1:g.5319C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001557.4:c.219C>A MANE Select | NP_001001557.1:p.Asp73Glu |
| ENST00000287020.7:c.219C>A MANE Select | ENSP00000287020.4:p.Asp73Glu |
| NM_001001557.2:c.219C>A | NP_001001557.1:p.Asp73Glu |
| NM_001001557.3:c.219C>A | NP_001001557.1:p.Asp73Glu |
| ENST00000287020.6:c.219C>A | ENSP00000287020.4:p.Asp73Glu |
| ENST00000620978.1:c.219C>A | ENSP00000480170.1:p.Asp73Glu |
| ENST00000621429.1:c.219C>A | ENSP00000483711.1:p.Asp73Glu |