Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739342C>T , CM000674.2:g.120739342C>T | GRCh38 |
| NC_000012.11:g.121177145C>T , CM000674.1:g.121177145C>T | GRCh37 |
| NC_000012.10:g.119661528C>T | NCBI36 |
| NG_007991.1:g.18575C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.1133C>T MANE Select | ENSP00000242592.4:p.Ala378Val | |
| ENST00000242592.8:c.1133C>T | ENSP00000242592.4:p.Ala378Val | |
| ENST00000411593.2:c.1121C>T | ENSP00000401045.2:p.Ala374Val | |
| NM_000017.3:c.1133C>T | NP_000008.1:p.Ala378Val | |
| NM_001302554.1:c.1121C>T | NP_001289483.1:p.Ala374Val | |
| NM_000017.4:c.1133C>T MANE Select | NP_000008.1:p.Ala378Val | |
| NM_001302554.2:c.1121C>T | NP_001289483.1:p.Ala374Val |