Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240871394G>T , CM000664.2:g.240871394G>T | GRCh38 |
| NC_000002.11:g.241810811G>T , CM000664.1:g.241810811G>T | GRCh37 |
| NC_000002.10:g.241459484G>T | NCBI36 |
| NG_008005.1:g.7650G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.469G>T MANE Select | NP_000021.1:p.Glu157Ter |
| ENST00000307503.4:c.469G>T MANE Select | ENSP00000302620.3:p.Glu157Ter |
| NM_000030.2:c.469G>T | NP_000021.1:p.Glu157Ter |
| ENST00000307503.3:c.469G>T | ENSP00000302620.3:p.Glu157Ter |
| ENST00000472436.1:n.489G>T | |
| ENST00000476698.1:n.206G>T |