ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47449163G>C , CM000673.2:g.47449163G>C | GRCh38 |
| NC_000011.9:g.47470715G>C , CM000673.1:g.47470715G>C | GRCh37 |
| NC_000011.8:g.47427291G>C | NCBI36 |
| NG_008312.1:g.5016C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.6:c.-199C>G | ENSP00000298854.2:n.-199C>G | |
| NM_005055.4:c.-199C>G | NP_005046.2:n.-199C>G | |
| NM_032645.4:c.-199C>G | NP_116034.2:n.-199C>G |