Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533817C= , CM000681.2:g.7533817C= | GRCh38 |
| NC_000019.9:g.7598703C= , CM000681.1:g.7598703C= | GRCh37 |
| NC_000019.8:g.7504703C= | NCBI36 |
| NG_013374.1:g.4666C= | |
| NG_015806.1:g.16208C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.*22C= MANE Select | ENSP00000264079.5:n.*22C= | |
| ENST00000264079.10:c.*22C= | ENSP00000264079.5:n.*22C= | |
| ENST00000394321.9:n.2080C= | ||
| ENST00000599334.1:c.493C= | ||
| ENST00000601870.1:c.118C= | ||
| ENST00000602227.1:n.319C= | ||
| NM_020533.2:c.*22C= | NP_065394.1:n.*22C= | |
| NM_020533.3:c.*22C= MANE Select | NP_065394.1:n.*22C= |