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