Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919574C>A , CM000679.2:g.74919574C>A | GRCh38 |
| NC_000017.10:g.72915669C>A , CM000679.1:g.72915669C>A | GRCh37 |
| NC_000017.9:g.70427264C>A | NCBI36 |
| NG_007882.1:g.8683G>T | |
| NG_033062.1:g.300C>A | |
| NG_007882.2:g.8690G>T | |
| NG_033062.2:g.300C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1262G>T MANE Select | ENSP00000480279.1:p.Cys421Phe | |
| ENST00000579243.1:c.*861G>T | ENSP00000462568.1:n.*861G>T | |
| ENST00000614341.4:c.1262G>T | ENSP00000480279.1:p.Cys421Phe | |
| NM_001282489.2:c.953G>T | NP_001269418.1:p.Cys318Phe | |
| NM_173477.4:c.1262G>T | NP_775748.2:p.Cys421Phe | |
| XM_011524296.1:c.953G>T | XP_011522598.1:p.Cys318Phe | |
| XM_011524296.2:c.953G>T | XP_011522598.1:p.Cys318Phe | |
| NM_173477.5:c.1262G>T MANE Select | NP_775748.2:p.Cys421Phe | |
| NM_001282489.3:c.953G>T | NP_001269418.1:p.Cys318Phe |