Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257492C>T , CM000671.2:g.133257492C>T | GRCh38 |
| NC_000009.11:g.136132879C>T , CM000671.1:g.136132879C>T | GRCh37 |
| NC_000009.10:g.135122700C>T | NCBI36 |
| NG_006669.1:g.20176G>A | |
| NG_006669.2:g.22724G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.320G>A | ||
| ENST00000647353.1:n.54-6340G>A | ||
| ENST00000651471.1:n.329+550G>A | ||
| ENST00000679909.1:c.28+17670G>A | ENSP00000506089.1:n.28+17670G>A | |
| ENST00000453660.3:n.302G>A | ||
| ENST00000538324.2:c.288G>A | ENSP00000483018.1:p.Glu96= | |
| ENST00000611156.4:c.288G>A | ENSP00000483265.1:p.Glu96= | |
| NM_020469.2:c.291G>A | NP_065202.2:p.Glu97= | |
| NM_020469.3:c.291G>A | NP_065202.2:p.Glu97= |