Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533806C= , CM000681.2:g.7533806C= | GRCh38 |
| NC_000019.9:g.7598692C= , CM000681.1:g.7598692C= | GRCh37 |
| NC_000019.8:g.7504692C= | NCBI36 |
| NG_013374.1:g.4655C= | |
| NG_015806.1:g.16197C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*11C= MANE Select | ENSP00000264079.5:n.*11C= | |
| ENST00000264079.10:c.*11C= | ENSP00000264079.5:n.*11C= | |
| ENST00000394321.9:n.2069C= | ||
| ENST00000599334.1:c.482C= | ||
| ENST00000601870.1:c.107C= | ||
| ENST00000602227.1:n.308C= | ||
| NM_020533.2:c.*11C= | NP_065394.1:n.*11C= | |
| NM_020533.3:c.*11C= MANE Select | NP_065394.1:n.*11C= |