Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780659G= , CM000672.2:g.94780659G= | GRCh38 |
| NC_000010.10:g.96540416G= , CM000672.1:g.96540416G= | GRCh37 |
| NC_000010.9:g.96530406G= | NCBI36 |
| NG_008384.2:g.22954G= | |
| NG_008384.3:g.22979G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.642G= MANE Select | ENSP00000360372.3:p.Gln214= | |
| ENST00000645461.1:n.1695G= | ||
| ENST00000371321.7:c.642G= | ENSP00000360372.3:p.Gln214= | |
| ENST00000464755.1:c.1405G= | ENSP00000483243.1:n.1405G= | |
| NM_000769.2:c.642G= | NP_000760.1:p.Gln214= | |
| NM_000769.4:c.642G= MANE Select | NP_000760.1:p.Gln214= |