Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008014T>G , CM000666.2:g.88008014T>G | GRCh38 |
| NC_000004.11:g.88929166T>G , CM000666.1:g.88929166T>G | GRCh37 |
| NC_000004.10:g.89148190T>G | NCBI36 |
| NG_008604.1:g.5347T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.281T>G MANE Select | ENSP00000237596.2:p.Phe94Cys | |
| ENST00000237596.6:c.281T>G | ENSP00000237596.2:p.Phe94Cys | |
| NM_000297.3:c.281T>G | NP_000288.1:p.Phe94Cys | |
| XM_011532028.1:c.281T>G | XP_011530330.1:p.Phe94Cys | |
| XR_244632.2:n.376T>G | ||
| NR_156488.1:n.368T>G | ||
| XM_011532028.2:c.281T>G | XP_011530330.1:p.Phe94Cys | |
| NM_000297.4:c.281T>G MANE Select | NP_000288.1:p.Phe94Cys | |
| NR_156488.2:n.380T>G |