Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186182258A= , CM000663.2:g.186182258A= | GRCh38 |
| NC_000001.10:g.186151390A= , CM000663.1:g.186151390A= | GRCh37 |
| NC_000001.9:g.184418013A= | NCBI36 |
| NG_011841.1:g.452708A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031935.3:c.16385A= MANE Select | NP_114141.2:p.Gln5462= |
| ENST00000271588.9:c.16385A= MANE Select | ENSP00000271588.4:p.Gln5462= |
| NM_031935.2:c.16385A= | NP_114141.2:p.Gln5462= |
| ENST00000271588.8:c.16385A= | ENSP00000271588.4:p.Gln5462= |
| ENST00000414277.1:c.410A= | ENSP00000406205.1:p.Gln137= |
| XM_011510037.1:c.16100A= | XP_011508339.1:p.Gln5367= |
| XM_011510038.1:c.16034A= | XP_011508340.1:p.Gln5345= |
| XM_011510038.3:c.16034A= | XP_011508340.1:p.Gln5345= |
| XM_017002437.1:c.14408A= | XP_016857926.1:p.Gln4803= |