Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232604C>A , CM000667.2:g.173232604C>A | GRCh38 |
| NC_000005.9:g.172659607C>A , CM000667.1:g.172659607C>A | GRCh37 |
| NC_000005.8:g.172592213C>A | NCBI36 |
| NG_013340.1:g.7709G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004387.4:c.940G>T MANE Select | NP_004378.1:p.Gly314Ter |
| ENST00000329198.5:c.940G>T MANE Select | ENSP00000327758.4:p.Gly314Ter |
| NM_001166175.1:c.*893G>T | NP_001159647.1:n.*893G>T |
| NM_001166175.2:c.*893G>T | NP_001159647.1:n.*893G>T |
| NM_001166176.1:c.*739G>T | NP_001159648.1:n.*739G>T |
| NM_001166176.2:c.*739G>T | NP_001159648.1:n.*739G>T |
| NM_004387.3:c.940G>T | NP_004378.1:p.Gly314Ter |
| ENST00000329198.4:c.940G>T | ENSP00000327758.4:p.Gly314Ter |