Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31336524T>G , CM000680.2:g.31336524T>G | GRCh38 |
| NC_000018.9:g.28916487T>G , CM000680.1:g.28916487T>G | GRCh37 |
| NC_000018.8:g.27170485T>G | NCBI36 |
| NG_011803.2:g.23436T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257192.5:c.1176T>G MANE Select | ENSP00000257192.4:p.Tyr392Ter | |
| ENST00000257192.4:c.1176T>G | ENSP00000257192.4:p.Tyr392Ter | |
| NM_001942.3:c.1176T>G | NP_001933.2:p.Tyr392Ter | |
| NM_001942.4:c.1176T>G MANE Select | NP_001933.2:p.Tyr392Ter |