Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31785269G>A , CM000668.2:g.31785269G>A | GRCh38 |
| NC_000006.11:g.31753046G>A , CM000668.1:g.31753046G>A | GRCh37 |
| NC_000006.10:g.31861025G>A | NCBI36 |
| NG_028229.1:g.15667C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006295.3:c.1324C>T MANE Select | NP_006286.1:p.Arg442Ter |
| ENST00000375663.8:c.1324C>T MANE Select | ENSP00000364815.3:p.Arg442Ter |
| NM_006295.2:c.1324C>T | NP_006286.1:p.Arg442Ter |
| ENST00000375663.7:c.1324C>T | ENSP00000364815.3:p.Arg442Ter |
| ENST00000489979.1:n.635C>T | |
| ENST00000495010.5:n.867C>T | |
| XM_005249362.2:c.1327C>T | XP_005249419.1:p.Arg443Ter |
| XM_017011246.1:c.-328C>T | XP_016866735.1:n.-328C>T |
| XM_024446537.1:c.-328C>T | XP_024302305.1:n.-328C>T |
| XR_926304.1:n.1743C>T | |
| XR_926304.2:n.1743C>T |