Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255985C= , CM000671.2:g.133255985C= | GRCh38 |
| NC_000009.11:g.136131372C= , CM000671.1:g.136131372C= | GRCh37 |
| NC_000009.10:g.135121193C= | NCBI36 |
| NG_006669.1:g.21683G= | |
| NG_006669.2:g.24231G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.775G= | ||
| ENST00000647353.1:n.54-4833G= | ||
| ENST00000679909.1:c.28+19177G= | ENSP00000506089.1:n.28+19177G= | |
| ENST00000453660.3:n.757G= | ||
| ENST00000538324.2:c.743G= | ENSP00000483018.1:p.Arg248= | |
| ENST00000611156.4:c.743G= | ENSP00000483265.1:p.Arg248= | |
| NM_020469.2:c.746G= | NP_065202.2:p.Arg249= | |
| NM_020469.3:c.746G= | NP_065202.2:p.Arg249= |