Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39248489C= , CM000681.2:g.39248489C= | GRCh38 |
| NC_000019.9:g.39739129C= , CM000681.1:g.39739129C= | GRCh37 |
| NC_000019.8:g.44430969C= | NCBI36 |
| NG_042193.1:g.1483G= | |
| NG_055295.1:g.5368G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_074079.1:n.368G= | |
| ENST00000606380.2:c.91G= | ENSP00000476098.1:p.Ala31= |
| ENST00000610963.1:c.90G= | ENSP00000481371.1:p.Ser30= |
| ENST00000616270.4:c.91G= | ENSP00000480679.1:p.Ala31= |
| ENST00000634680.1:c.91G= | ENSP00000489240.1:p.Ala31= |
| ENST00000634967.1:c.91G= | ENSP00000489559.1:p.Ala31= |