Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186174523A= , CM000663.2:g.186174523A= | GRCh38 |
| NC_000001.10:g.186143655A= , CM000663.1:g.186143655A= | GRCh37 |
| NC_000001.9:g.184410278A= | NCBI36 |
| NG_011841.1:g.444973A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15824A= MANE Select | ENSP00000271588.4:p.Glu5275= | |
| ENST00000271588.8:c.15824A= | ENSP00000271588.4:p.Glu5275= | |
| ENST00000414277.1:c.200A= | ENSP00000406205.1:p.Glu67= | |
| NM_031935.2:c.15824A= | NP_114141.2:p.Glu5275= | |
| XM_011510037.1:c.15539A= | XP_011508339.1:p.Glu5180= | |
| XM_011510038.1:c.15824A= | XP_011508340.1:p.Glu5275= | |
| XM_011510038.3:c.15824A= | XP_011508340.1:p.Glu5275= | |
| XM_017002437.1:c.13847A= | XP_016857926.1:p.Glu4616= | |
| NM_031935.3:c.15824A= MANE Select | NP_114141.2:p.Glu5275= |