Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740138G>T , CM000685.2:g.153740138G>T | GRCh38 |
| NC_000023.10:g.153005592G>T , CM000685.1:g.153005592G>T | GRCh37 |
| NC_000023.9:g.152658786G>T | NCBI36 |
| NG_009022.2:g.20271G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.1535G>T MANE Select | NP_000024.2:p.Gly512Val |
| ENST00000218104.6:c.1535G>T MANE Select | ENSP00000218104.3:p.Gly512Val |
| NM_000033.3:c.1535G>T | NP_000024.2:p.Gly512Val |
| ENST00000218104.5:c.1535G>T | ENSP00000218104.3:p.Gly512Val |
| ENST00000443684.2:n.538G>T | |
| XR_938507.1:n.2007G>T | |
| XR_938507.2:n.2007G>T |