Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1240642C>T , CM000667.2:g.1240642C>T | GRCh38 |
| NC_000005.9:g.1240757C>T , CM000667.1:g.1240757C>T | GRCh37 |
| NC_000005.8:g.1293757C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_182632.3:c.957C>T MANE Select | NP_872438.2:p.Tyr319= |
| ENST00000324642.4:c.957C>T MANE Select | ENSP00000323549.3:p.Tyr319= |
| NM_182632.2:c.957C>T | NP_872438.2:p.Tyr319= |
| ENST00000324642.3:c.957C>T | ENSP00000323549.3:p.Tyr319= |