Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257433C= , CM000671.2:g.133257433C= | GRCh38 |
| NC_000009.11:g.136132820C= , CM000671.1:g.136132820C= | GRCh37 |
| NC_000009.10:g.135122641C= | NCBI36 |
| NG_006669.1:g.20235G= | |
| NG_006669.2:g.22783G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.379G= | ||
| ENST00000647353.1:n.54-6281G= | ||
| ENST00000651471.1:n.329+609G= | ||
| ENST00000679909.1:c.28+17729G= | ENSP00000506089.1:n.28+17729G= | |
| ENST00000453660.3:n.361G= | ||
| ENST00000538324.2:c.347G= | ENSP00000483018.1:p.Gly116= | |
| ENST00000611156.4:c.347G= | ENSP00000483265.1:p.Gly116= | |
| NM_020469.2:c.350G= | NP_065202.2:p.Gly117= | |
| NM_020469.3:c.350G= | NP_065202.2:p.Gly117= |