Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255638C>T , CM000671.2:g.133255638C>T | GRCh38 |
| NC_000009.11:g.136131025C>T , CM000671.1:g.136131025C>T | GRCh37 |
| NC_000009.10:g.135120846C>T | NCBI36 |
| NG_006669.1:g.22030G>A | |
| NG_006669.2:g.24578G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1122G>A | ||
| ENST00000647353.1:n.54-4486G>A | ||
| ENST00000679909.1:c.28+19524G>A | ENSP00000506089.1:n.28+19524G>A | |
| ENST00000453660.3:n.1104G>A | ||
| ENST00000538324.2:c.1086G>A | ENSP00000483018.1:p.Leu362= | |
| ENST00000611156.4:c.*28G>A | ENSP00000483265.1:n.*28G>A | |
| NM_020469.2:c.*28G>A | NP_065202.2:n.*28G>A | |
| NM_020469.3:c.*28G>A | NP_065202.2:n.*28G>A |