Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255771G>C , CM000671.2:g.133255771G>C | GRCh38 |
| NC_000009.11:g.136131158G>C , CM000671.1:g.136131158G>C | GRCh37 |
| NC_000009.10:g.135120979G>C | NCBI36 |
| NG_006669.1:g.21897C>G | |
| NG_006669.2:g.24445C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.989C>G | ||
| ENST00000647353.1:n.54-4619C>G | ||
| ENST00000679909.1:c.28+19391C>G | ENSP00000506089.1:n.28+19391C>G | |
| ENST00000453660.3:n.971C>G | ||
| ENST00000538324.2:c.957C>G | ENSP00000483018.1:p.Ser319= | |
| ENST00000611156.4:c.957C>G | ENSP00000483265.1:p.Ser319= | |
| NM_020469.2:c.960C>G | NP_065202.2:p.Ser320= | |
| NM_020469.3:c.960C>G | NP_065202.2:p.Ser320= |