Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255930C= , CM000671.2:g.133255930C= | GRCh38 |
| NC_000009.11:g.136131317C= , CM000671.1:g.136131317C= | GRCh37 |
| NC_000009.10:g.135121138C= | NCBI36 |
| NG_006669.1:g.21738G= | |
| NG_006669.2:g.24286G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.830G= | ||
| ENST00000647353.1:n.54-4778G= | ||
| ENST00000679909.1:c.28+19232G= | ENSP00000506089.1:n.28+19232G= | |
| ENST00000453660.3:n.812G= | ||
| ENST00000538324.2:c.798G= | ENSP00000483018.1:p.Gly266= | |
| ENST00000611156.4:c.798G= | ENSP00000483265.1:p.Gly266= | |
| NM_020469.2:c.801G= | NP_065202.2:p.Gly267= | |
| NM_020469.3:c.801G= | NP_065202.2:p.Gly267= |