Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.182586246G>C , CM000663.2:g.182586246G>C | GRCh38 |
| NC_000001.10:g.182555381G>C , CM000663.1:g.182555381G>C | GRCh37 |
| NC_000001.9:g.180822004G>C | NCBI36 |
| NG_009024.2:g.5728C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367559.7:c.561C>G MANE Select | ENSP00000356530.3:p.Leu187= | |
| ENST00000539397.1:c.561C>G | ENSP00000440844.1:p.Leu187= | |
| NM_021133.3:c.561C>G | NP_066956.1:p.Leu187= | |
| XM_005245411.2:c.561C>G | XP_005245468.1:p.Leu187= | |
| XR_001737359.1:n.844C>G | ||
| XR_001737360.1:n.844C>G | ||
| NM_021133.4:c.561C>G MANE Select | NP_066956.1:p.Leu187= |