Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247731C= , CM000681.2:g.39247731C= | GRCh38 |
| NC_000019.9:g.39738371C= , CM000681.1:g.39738371C= | GRCh37 |
| NC_000019.8:g.44430211C= | NCBI36 |
| NG_042193.1:g.2241G= | |
| NG_055295.1:g.6126G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.344G= | ENSP00000476098.1:p.Arg115= | |
| ENST00000610963.1:c.343G= | ENSP00000481371.1:p.Ala115= | |
| ENST00000616270.4:c.224-65G= | ENSP00000480679.1:n.224-65G= | |
| ENST00000634680.1:c.152-268G= | ENSP00000489240.1:n.152-268G= | |
| ENST00000634967.1:c.223+193G= | ENSP00000489559.1:n.223+193G= | |
| NR_074079.1:n.621G= |