Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80285517G= , CM000672.2:g.80285517G= | GRCh38 |
| NC_000010.10:g.82045273G= , CM000672.1:g.82045273G= | GRCh37 |
| NC_000010.9:g.82035253G= | NCBI36 |
| NG_008083.1:g.9162C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.164C= MANE Select | ENSP00000361287.3:p.Ala55= | |
| ENST00000372213.7:c.164C= | ENSP00000361287.3:p.Ala55= | |
| ENST00000455001.1:c.98C= | ENSP00000414961.1:p.Ala33= | |
| NM_000429.2:c.164C= | NP_000420.1:p.Ala55= | |
| XM_005269842.3:c.164C= | XP_005269899.1:p.Ala55= | |
| XM_005269843.3:c.164C= | XP_005269900.1:p.Ala55= | |
| NM_000429.3:c.164C= MANE Select | NP_000420.1:p.Ala55= |