Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273487G= , CM000672.2:g.80273487G= | GRCh38 |
| NC_000010.10:g.82033243G= , CM000672.1:g.82033243G= | GRCh37 |
| NC_000010.9:g.82023223G= | NCBI36 |
| NG_008083.1:g.21192C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.*294C= MANE Select | ENSP00000361287.3:n.*294C= | |
| ENST00000372213.7:c.*294C= | ENSP00000361287.3:n.*294C= | |
| ENST00000480845.1:n.620+94C= | ||
| ENST00000485270.5:n.994C= | ||
| NM_000429.2:c.*294C= | NP_000420.1:n.*294C= | |
| XM_005269842.3:c.*294C= | XP_005269899.1:n.*294C= | |
| XM_005269843.3:c.*294C= | XP_005269900.1:n.*294C= | |
| NM_000429.3:c.*294C= MANE Select | NP_000420.1:n.*294C= |