Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273846C= , CM000672.2:g.80273846C= | GRCh38 |
| NC_000010.10:g.82033602C= , CM000672.1:g.82033602C= | GRCh37 |
| NC_000010.9:g.82023582C= | NCBI36 |
| NG_008083.1:g.20833G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.1123G= MANE Select | ENSP00000361287.3:p.Ala375= | |
| ENST00000372213.7:c.1123G= | ENSP00000361287.3:p.Ala375= | |
| ENST00000480845.1:n.355G= | ||
| ENST00000485270.5:n.635G= | ||
| NM_000429.2:c.1123G= | NP_000420.1:p.Ala375= | |
| XM_005269842.3:c.1123G= | XP_005269899.1:p.Ala375= | |
| XM_005269843.3:c.1000G= | XP_005269900.1:p.Ala334= | |
| NM_000429.3:c.1123G= MANE Select | NP_000420.1:p.Ala375= |