Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215758656A>C , CM000663.2:g.215758656A>C | GRCh38 |
| NC_000001.10:g.215931998A>C , CM000663.1:g.215931998A>C | GRCh37 |
| NC_000001.9:g.213998621A>C | NCBI36 |
| NG_009497.1:g.669741T>G | |
| NG_009497.2:g.669793T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_206933.4:c.11328T>G MANE Select | NP_996816.3:p.Tyr3776Ter |
| ENST00000307340.8:c.11328T>G MANE Select | ENSP00000305941.3:p.Tyr3776Ter |
| NM_206933.2:c.11328T>G | NP_996816.2:p.Tyr3776Ter |
| NM_206933.3:c.11328T>G | NP_996816.2:p.Tyr3776Ter |
| ENST00000307340.7:c.11328T>G | ENSP00000305941.3:p.Tyr3776Ter |
| ENST00000674083.1:c.11328T>G | ENSP00000501296.1:p.Tyr3776Ter |