Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125766833A>C , CM000672.2:g.125766833A>C | GRCh38 |
| NC_000010.10:g.127455402A>C , CM000672.1:g.127455402A>C | GRCh37 |
| NC_000010.9:g.127445392A>C | NCBI36 |
| NG_052815.1:g.13989T>G | |
| NG_052815.2:g.13989T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651834.1:c.612+699T>G | ||
| ENST00000651977.1:c.679+699T>G | ||
| ENST00000652044.1:c.258+3501T>G | ||
| ENST00000368808.3:c.1539T>G MANE Select | ENSP00000357798.3:p.Tyr513Ter | |
| NM_147191.1:c.1539T>G MANE Select | NP_671724.1:p.Tyr513Ter | |
| XM_011539257.1:c.1539T>G | XP_011537559.1:p.Tyr513Ter |