Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710723G>T , CM000681.2:g.6710723G>T | GRCh38 |
| NC_000019.9:g.6710734G>T , CM000681.1:g.6710734G>T | GRCh37 |
| NC_000019.8:g.6661734G>T | NCBI36 |
| NG_009557.1:g.14929C>A , LRG_27:g.14929C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000064.4:c.1602C>A MANE Select | NP_000055.2:p.Tyr534Ter |
| ENST00000245907.11:c.1602C>A MANE Select | ENSP00000245907.4:p.Tyr534Ter |
| NM_000064.3:c.1602C>A | NP_000055.2:p.Tyr534Ter |
| ENST00000245907.10:c.1602C>A | ENSP00000245907.4:p.Tyr534Ter |
| ENST00000600763.1:n.235C>A | |
| ENST00000695652.1:c.1479C>A | ENSP00000512083.1:p.Tyr493Ter |
| ENST00000695654.1:c.726C>A | ENSP00000512085.1:p.Tyr242Ter |
| ENST00000695655.1:c.507C>A | ENSP00000512086.1:p.Tyr169Ter |
| ENST00000695692.1:n.966C>A |