Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257682T>C , CM000671.2:g.133257682T>C | GRCh38 |
| NC_000009.11:g.136133069T>C , CM000671.1:g.136133069T>C | GRCh37 |
| NC_000009.10:g.135122890T>C | NCBI36 |
| NG_006669.1:g.19985A>G | |
| NG_006669.2:g.22533A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.270-140A>G | ||
| ENST00000647353.1:n.54-6530A>G | ||
| ENST00000651471.1:n.329+360A>G | ||
| ENST00000679909.1:c.28+17480A>G | ENSP00000506089.1:n.28+17480A>G | |
| ENST00000453660.3:n.252-140A>G | ||
| ENST00000538324.2:c.240-140A>G | ENSP00000483018.1:n.240-140A>G | |
| ENST00000611156.4:c.240-140A>G | ENSP00000483265.1:n.240-140A>G | |
| NM_020469.2:c.240-140A>G | NP_065202.2:n.240-140A>G | |
| NM_020469.3:c.240-140A>G | NP_065202.2:n.240-140A>G |