Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257362A>C , CM000671.2:g.133257362A>C | GRCh38 |
| NC_000009.11:g.136132749A>C , CM000671.1:g.136132749A>C | GRCh37 |
| NC_000009.10:g.135122570A>C | NCBI36 |
| NG_006669.1:g.20306T>G | |
| NG_006669.2:g.22854T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.403+47T>G | ||
| ENST00000647353.1:n.54-6210T>G | ||
| ENST00000651471.1:n.329+680T>G | ||
| ENST00000679909.1:c.28+17800T>G | ENSP00000506089.1:n.28+17800T>G | |
| ENST00000453660.3:n.385+47T>G | ||
| ENST00000538324.2:c.371+47T>G | ENSP00000483018.1:n.371+47T>G | |
| ENST00000611156.4:c.371+47T>G | ENSP00000483265.1:n.371+47T>G | |
| NM_020469.2:c.374+47T>G | NP_065202.2:n.374+47T>G | |
| NM_020469.3:c.374+47T>G | NP_065202.2:n.374+47T>G |