Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49124826A>G , CM000665.2:g.49124826A>G | GRCh38 |
| NC_000003.11:g.49162259A>G , CM000665.1:g.49162259A>G | GRCh37 |
| NC_000003.10:g.49137263A>G | NCBI36 |
| NG_008094.1:g.13341T>C | |
| NG_054716.1:g.1113T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002292.4:c.2984T>C MANE Select | NP_002283.3:p.Met995Thr |
| ENST00000305544.9:c.2984T>C MANE Select | ENSP00000307156.4:p.Met995Thr |
| NM_002292.3:c.2984T>C | NP_002283.3:p.Met995Thr |
| ENST00000305544.8:c.2984T>C | ENSP00000307156.4:p.Met995Thr |
| ENST00000418109.5:c.2984T>C | ENSP00000388325.1:p.Met995Thr |
| ENST00000462930.5:n.391T>C | |
| ENST00000464891.5:n.717T>C | |
| ENST00000542580.1:n.299T>C | |
| XM_005265127.3:c.2984T>C | XP_005265184.1:p.Met995Thr |
| XM_005265127.4:c.2984T>C | XP_005265184.1:p.Met995Thr |