Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230274471G>A , CM000663.2:g.230274471G>A | GRCh38 |
| NC_000001.10:g.230410217G>A , CM000663.1:g.230410217G>A | GRCh37 |
| NC_000001.9:g.228476840G>A | NCBI36 |
| NG_011854.1:g.212262G>A | |
| NG_011854.2:g.221683G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366672.5:c.1467G>A MANE Select | ENSP00000355632.4:p.Ser489= | |
| ENST00000366672.4:c.1467G>A | ENSP00000355632.4:p.Ser489= | |
| ENST00000485438.1:n.1119G>A | ||
| NM_001291866.1:c.1353G>A | NP_001278795.1:p.Ser451= | |
| NM_004481.4:c.1467G>A | NP_004472.1:p.Ser489= | |
| XM_011544154.1:c.1395G>A | XP_011542456.1:p.Ser465= | |
| XM_011544155.1:c.1266G>A | XP_011542457.1:p.Ser422= | |
| NM_004481.5:c.1467G>A MANE Select | NP_004472.1:p.Ser489= | |
| NM_001291866.2:c.1353G>A | NP_001278795.1:p.Ser451= |