Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59023815C>G , CM000682.2:g.59023815C>G | GRCh38 |
| NC_000020.10:g.57598870C>G , CM000682.1:g.57598870C>G | GRCh37 |
| NC_000020.9:g.57032265C>G | NCBI36 |
| NG_023424.2:g.9562C>G , LRG_581:g.9562C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030773.4:c.388C>G MANE Select | NP_110400.1:p.Leu130Val |
| ENST00000217133.2:c.388C>G MANE Select | ENSP00000217133.1:p.Leu130Val |
| NM_030773.3:c.388C>G , LRG_581t1:c.388C>G | NP_110400.1:p.Leu130Val |
| ENST00000217133.1:c.388C>G | ENSP00000217133.1:p.Leu130Val |
| XM_017028085.1:c.322C>G | XP_016883574.1:p.Leu108Val |