Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55094892G>A , CM000666.2:g.55094892G>A | GRCh38 |
| NC_000004.11:g.55961059G>A , CM000666.1:g.55961059G>A | GRCh37 |
| NC_000004.10:g.55655816G>A | NCBI36 |
| NG_012004.1:g.35704C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002253.4:c.2881C>T MANE Select | NP_002244.1:p.Arg961Trp |
| ENST00000263923.5:c.2881C>T MANE Select | ENSP00000263923.4:p.Arg961Trp |
| NM_002253.2:c.2881C>T | NP_002244.1:p.Arg961Trp |
| NM_002253.3:c.2881C>T | NP_002244.1:p.Arg961Trp |
| ENST00000263923.4:c.2881C>T | ENSP00000263923.4:p.Arg961Trp |
| ENST00000509309.1:n.645C>T | |
| ENST00000647068.1:n.2894C>T |