Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247708G= , CM000681.2:g.39247708G= | GRCh38 |
| NC_000019.9:g.39738348G= , CM000681.1:g.39738348G= | GRCh37 |
| NC_000019.8:g.44430188G= | NCBI36 |
| NG_042193.1:g.2264C= | |
| NG_055295.1:g.6149C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.367C= | ENSP00000476098.1:p.Pro123= | |
| ENST00000610963.1:c.366C= | ENSP00000481371.1:p.Cys122= | |
| ENST00000616270.4:c.224-42C= | ENSP00000480679.1:n.224-42C= | |
| ENST00000634680.1:c.152-245C= | ENSP00000489240.1:n.152-245C= | |
| ENST00000634967.1:c.223+216C= | ENSP00000489559.1:n.223+216C= | |
| NR_074079.1:n.644C= |