Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255413A>C , CM000671.2:g.133255413A>C | GRCh38 |
| NC_000009.11:g.136130800A>C , CM000671.1:g.136130800A>C | GRCh37 |
| NC_000009.10:g.135120621A>C | NCBI36 |
| NG_006669.1:g.22255T>G | |
| NG_006669.2:g.24803T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1347T>G | ||
| ENST00000647353.1:n.54-4261T>G | ||
| ENST00000679909.1:c.28+19749T>G | ENSP00000506089.1:n.28+19749T>G | |
| ENST00000453660.3:n.1329T>G | ||
| ENST00000611156.4:c.*253T>G | ENSP00000483265.1:n.*253T>G | |
| NM_020469.2:c.*253T>G | NP_065202.2:n.*253T>G | |
| NM_020469.3:c.*253T>G | NP_065202.2:n.*253T>G |