Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23637800C>A , CM000682.2:g.23637800C>A | GRCh38 |
| NC_000020.10:g.23618437C>A , CM000682.1:g.23618437C>A | GRCh37 |
| NC_000020.9:g.23566437C>A | NCBI36 |
| NG_012887.2:g.5138G>T | |
| NG_012887.3:g.5138G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376925.8:c.63G>T MANE Select | ENSP00000366124.3:p.Val21= | |
| ENST00000376925.7:c.63G>T | ENSP00000366124.3:p.Val21= | |
| ENST00000398409.1:c.63G>T | ENSP00000381446.1:p.Val21= | |
| ENST00000398411.5:c.63G>T | ENSP00000381448.1:p.Val21= | |
| NM_000099.3:c.63G>T | NP_000090.1:p.Val21= | |
| NM_001288614.1:c.63G>T | NP_001275543.1:p.Val21= | |
| NM_000099.4:c.63G>T MANE Select | NP_000090.1:p.Val21= | |
| NM_001288614.2:c.63G>T | NP_001275543.1:p.Val21= |