Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133256238C= , CM000671.2:g.133256238C= | GRCh38 |
| NC_000009.11:g.136131625C= , CM000671.1:g.136131625C= | GRCh37 |
| NC_000009.10:g.135121446C= | NCBI36 |
| NG_006669.1:g.21430G= | |
| NG_006669.2:g.23978G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.522G= | ||
| ENST00000647353.1:n.54-5086G= | ||
| ENST00000651471.1:n.448G= | ||
| ENST00000679909.1:c.28+18924G= | ENSP00000506089.1:n.28+18924G= | |
| ENST00000453660.3:n.504G= | ||
| ENST00000538324.2:c.490G= | ENSP00000483018.1:p.Gly164= | |
| ENST00000611156.4:c.490G= | ENSP00000483265.1:p.Gly164= | |
| NM_020469.2:c.493G= | NP_065202.2:p.Gly165= | |
| NM_020469.3:c.493G= | NP_065202.2:p.Gly165= |