Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257414G>A , CM000671.2:g.133257414G>A | GRCh38 |
| NC_000009.11:g.136132801G>A , CM000671.1:g.136132801G>A | GRCh37 |
| NC_000009.10:g.135122622G>A | NCBI36 |
| NG_006669.1:g.20254C>T | |
| NG_006669.2:g.22802C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020469.2:c.369C>T | NP_065202.2:p.Ile123= |
| NM_020469.3:c.369C>T | NP_065202.2:p.Ile123= |
| ENST00000453660.3:n.380C>T | |
| ENST00000453660.4:n.398C>T | |
| ENST00000538324.2:c.366C>T | ENSP00000483018.1:p.Ile122= |
| ENST00000611156.4:c.366C>T | ENSP00000483265.1:p.Ile122= |
| ENST00000647353.1:n.54-6262C>T | |
| ENST00000651471.1:n.329+628C>T | |
| ENST00000679909.1:c.28+17748C>T | ENSP00000506089.1:n.28+17748C>T |