Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133261595C>G , CM000671.2:g.133261595C>G | GRCh38 |
| NC_000009.11:g.136136998C>G , CM000671.1:g.136136998C>G | GRCh37 |
| NC_000009.10:g.135126819C>G | NCBI36 |
| NG_006669.1:g.16055G>C | |
| NG_006669.2:g.18620G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.129-221G>C | ||
| ENST00000647353.1:n.54-10443G>C | ||
| ENST00000651471.1:n.134-221G>C | ||
| ENST00000679909.1:c.28+13567G>C | ENSP00000506089.1:n.28+13567G>C | |
| ENST00000453660.3:n.111-221G>C | ||
| ENST00000538324.2:c.99-221G>C | ENSP00000483018.1:n.99-221G>C | |
| ENST00000611156.4:c.99-221G>C | ENSP00000483265.1:n.99-221G>C | |
| NM_020469.2:c.99-221G>C | NP_065202.2:n.99-221G>C | |
| NM_020469.3:c.99-221G>C | NP_065202.2:n.99-221G>C |