Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255664G>T , CM000671.2:g.133255664G>T | GRCh38 |
| NC_000009.11:g.136131051G>T , CM000671.1:g.136131051G>T | GRCh37 |
| NC_000009.10:g.135120872G>T | NCBI36 |
| NG_006669.1:g.22004C>A | |
| NG_006669.2:g.24552C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1096C>A | ||
| ENST00000647353.1:n.54-4512C>A | ||
| ENST00000679909.1:c.28+19498C>A | ENSP00000506089.1:n.28+19498C>A | |
| ENST00000453660.3:n.1078C>A | ||
| ENST00000538324.2:c.1060C>A | ENSP00000483018.1:p.Arg354= | |
| ENST00000611156.4:c.*2C>A | ENSP00000483265.1:n.*2C>A | |
| NM_020469.2:c.*2C>A | NP_065202.2:n.*2C>A | |
| NM_020469.3:c.*2C>A | NP_065202.2:n.*2C>A |