Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275159G= , CM000672.2:g.80275159G= | GRCh38 |
| NC_000010.10:g.82034915G= , CM000672.1:g.82034915G= | GRCh37 |
| NC_000010.9:g.82024895G= | NCBI36 |
| NG_008083.1:g.19520C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.809C= MANE Select | ENSP00000361287.3:p.Thr270= | |
| ENST00000372213.7:c.809C= | ENSP00000361287.3:p.Thr270= | |
| ENST00000480845.1:n.41C= | ||
| ENST00000485270.5:n.321C= | ||
| NM_000429.2:c.809C= | NP_000420.1:p.Thr270= | |
| XM_005269842.3:c.809C= | XP_005269899.1:p.Thr270= | |
| XM_005269843.3:c.686C= | XP_005269900.1:p.Thr229= | |
| NM_000429.3:c.809C= MANE Select | NP_000420.1:p.Thr270= |