Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38421059C>T , CM000685.2:g.38421059C>T | GRCh38 |
| NC_000023.10:g.38280312C>T , CM000685.1:g.38280312C>T | GRCh37 |
| NC_000023.9:g.38165256C>T | NCBI36 |
| NG_008471.1:g.73577C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.1042C>T MANE Select | ENSP00000039007.4:p.Gln348Ter | |
| ENST00000643344.1:c.*792C>T | ENSP00000496606.1:n.*792C>T | |
| ENST00000039007.4:c.1042C>T | ENSP00000039007.4:p.Gln348Ter | |
| ENST00000465127.1:c.172-245062C>T | ENSP00000417050.1:n.172-245062C>T | |
| NM_000531.5:c.1042C>T | NP_000522.3:p.Gln348Ter | |
| NM_000531.6:c.1042C>T MANE Select | NP_000522.3:p.Gln348Ter |