Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247658G= , CM000681.2:g.39247658G= | GRCh38 |
| NC_000019.9:g.39738298G= , CM000681.1:g.39738298G= | GRCh37 |
| NC_000019.8:g.44430138G= | NCBI36 |
| NG_042193.1:g.2314C= | |
| NG_055295.1:g.6199C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.367+50C= | ENSP00000476098.1:n.367+50C= | |
| ENST00000610963.1:c.366+50C= | ENSP00000481371.1:n.366+50C= | |
| ENST00000616270.4:c.232C= | ENSP00000480679.1:p.His78= | |
| ENST00000634680.1:c.152-195C= | ENSP00000489240.1:n.152-195C= | |
| ENST00000634967.1:c.224-195C= | ENSP00000489559.1:n.224-195C= | |
| NR_074079.1:n.644+50C= |