Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165041025G>A , CM000665.2:g.165041025G>A | GRCh38 |
| NC_000003.11:g.164758813G>A , CM000665.1:g.164758813G>A | GRCh37 |
| NC_000003.10:g.166241507G>A | NCBI36 |
| NG_017043.1:g.42471C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001041.4:c.2074C>T MANE Select | NP_001032.2:p.Arg692Cys |
| ENST00000264382.8:c.2074C>T MANE Select | ENSP00000264382.3:p.Arg692Cys |
| NM_001041.3:c.2074C>T | NP_001032.2:p.Arg692Cys |
| ENST00000264382.7:c.2074C>T | ENSP00000264382.3:p.Arg692Cys |
| XM_011513078.1:c.1975C>T | XP_011511380.1:p.Arg659Cys |
| XM_011513078.2:c.1975C>T | XP_011511380.1:p.Arg659Cys |