Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123621850T>C , CM000674.2:g.123621850T>C | GRCh38 |
| NC_000012.11:g.124106397T>C , CM000674.1:g.124106397T>C | GRCh37 |
| NC_000012.10:g.122672350T>C | NCBI36 |
| NG_015862.1:g.16927A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001414.4:c.824A>G MANE Select | NP_001405.1:p.Tyr275Cys |
| ENST00000424014.7:c.824A>G MANE Select | ENSP00000416250.2:p.Tyr275Cys |
| NM_001414.3:c.824A>G | NP_001405.1:p.Tyr275Cys |
| ENST00000424014.6:c.824A>G | ENSP00000416250.2:p.Tyr275Cys |
| ENST00000539951.5:c.*100A>G | ENSP00000438060.1:n.*100A>G |