Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51350361G>A , CM000681.2:g.51350361G>A | GRCh38 |
| NC_000019.9:g.51853615G>A , CM000681.1:g.51853615G>A | GRCh37 |
| NC_000019.8:g.56545427G>A | NCBI36 |
| NG_007115.1:g.21058C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001985.3:c.406C>T MANE Select | NP_001976.1:p.Gln136Ter |
| ENST00000309244.9:c.406C>T MANE Select | ENSP00000311930.3:p.Gln136Ter |
| NM_001014763.1:c.679C>T | NP_001014763.1:p.Gln227Ter |
| NM_001985.2:c.406C>T | NP_001976.1:p.Gln136Ter |
| ENST00000309244.8:c.406C>T | ENSP00000311930.3:p.Gln136Ter |
| ENST00000354232.8:c.679C>T | ENSP00000346173.3:p.Gln227Ter |
| ENST00000593992.1:n.429C>T | |
| ENST00000596253.1:c.247C>T | ENSP00000469628.1:p.Gln83Ter |
| XM_024451418.1:c.295C>T | XP_024307186.1:p.Gln99Ter |