Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10652153A>C , CM000682.2:g.10652153A>C | GRCh38 |
| NC_000020.10:g.10632801A>C , CM000682.1:g.10632801A>C | GRCh37 |
| NC_000020.9:g.10580801A>C | NCBI36 |
| NG_007496.1:g.26894T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000214.3:c.984T>G MANE Select | NP_000205.1:p.Tyr328Ter |
| ENST00000254958.10:c.984T>G MANE Select | ENSP00000254958.4:p.Tyr328Ter |
| NM_000214.2:c.984T>G | NP_000205.1:p.Tyr328Ter |
| ENST00000254958.9:c.984T>G | ENSP00000254958.4:p.Tyr328Ter |
| ENST00000423891.6:n.850T>G | |
| ENST00000617965.1:n.353T>G | |
| ENST00000617965.2:n.353T>G |