Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31785252C>T , CM000668.2:g.31785252C>T | GRCh38 |
| NC_000006.11:g.31753029C>T , CM000668.1:g.31753029C>T | GRCh37 |
| NC_000006.10:g.31861008C>T | NCBI36 |
| NG_028229.1:g.15684G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006295.3:c.1341G>A MANE Select | NP_006286.1:p.Met447Ile |
| ENST00000375663.8:c.1341G>A MANE Select | ENSP00000364815.3:p.Met447Ile |
| NM_006295.2:c.1341G>A | NP_006286.1:p.Met447Ile |
| ENST00000375663.7:c.1341G>A | ENSP00000364815.3:p.Met447Ile |
| ENST00000489979.1:n.652G>A | |
| ENST00000495010.5:n.884G>A | |
| XM_005249362.2:c.1344G>A | XP_005249419.1:p.Met448Ile |
| XM_017011246.1:c.-311G>A | XP_016866735.1:n.-311G>A |
| XM_024446537.1:c.-311G>A | XP_024302305.1:n.-311G>A |
| XR_926304.1:n.1760G>A | |
| XR_926304.2:n.1760G>A |