Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255396G>C , CM000671.2:g.133255396G>C | GRCh38 |
| NC_000009.11:g.136130783G>C , CM000671.1:g.136130783G>C | GRCh37 |
| NC_000009.10:g.135120604G>C | NCBI36 |
| NG_006669.1:g.22272C>G | |
| NG_006669.2:g.24820C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1364C>G | ||
| ENST00000647353.1:n.54-4244C>G | ||
| ENST00000679909.1:c.28+19766C>G | ENSP00000506089.1:n.28+19766C>G | |
| ENST00000453660.3:n.1346C>G | ||
| ENST00000611156.4:c.*270C>G | ENSP00000483265.1:n.*270C>G | |
| NM_020469.2:c.*270C>G | NP_065202.2:n.*270C>G | |
| NM_020469.3:c.*270C>G | NP_065202.2:n.*270C>G |