Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868558A>C , CM000673.2:g.65868558A>C | GRCh38 |
| NC_000011.9:g.65636029A>C , CM000673.1:g.65636029A>C | GRCh37 |
| NC_000011.8:g.65392605A>C | NCBI36 |
| NG_012304.2:g.9377T>G | |
| NG_053116.1:g.13497A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.799T>G MANE Select | ENSP00000309953.6:p.Cys267Gly | |
| ENST00000307998.10:c.799T>G | ENSP00000309953.6:p.Cys267Gly | |
| ENST00000526628.5:n.1365T>G | ||
| ENST00000527969.1:n.1484T>G | ||
| ENST00000528176.5:c.799T>G | ENSP00000434151.1:p.Cys267Gly | |
| ENST00000531005.5:n.1793T>G | ||
| ENST00000531972.5:c.799T>G | ENSP00000435295.1:p.Cys267Gly | |
| ENST00000532084.5:n.225T>G | ||
| NM_016938.4:c.799T>G | NP_058634.4:p.Cys267Gly | |
| NR_037718.1:n.1058T>G | ||
| NM_016938.5:c.799T>G MANE Select | NP_058634.4:p.Cys267Gly | |
| NR_037718.2:n.924T>G |