Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255404G>T , CM000671.2:g.133255404G>T | GRCh38 |
| NC_000009.11:g.136130791G>T , CM000671.1:g.136130791G>T | GRCh37 |
| NC_000009.10:g.135120612G>T | NCBI36 |
| NG_006669.1:g.22264C>A | |
| NG_006669.2:g.24812C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1356C>A | ||
| ENST00000647353.1:n.54-4252C>A | ||
| ENST00000679909.1:c.28+19758C>A | ENSP00000506089.1:n.28+19758C>A | |
| ENST00000453660.3:n.1338C>A | ||
| ENST00000611156.4:c.*262C>A | ENSP00000483265.1:n.*262C>A | |
| NM_020469.2:c.*262C>A | NP_065202.2:n.*262C>A | |
| NM_020469.3:c.*262C>A | NP_065202.2:n.*262C>A |