MaveDb:
Score
-0.23
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227101A>G , CM000673.2:g.5227101A>G | GRCh38 |
| NC_000011.9:g.5248331A>G , CM000673.1:g.5248331A>G | GRCh37 |
| NC_000011.8:g.5204907A>G | NCBI36 |
| NG_000007.3:g.70515T>C | |
| NG_059281.1:g.4971T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.-80T>C | ENSP00000494175.1:n.-80T>C | |
| ENST00000380315.2:c.-18-62T>C | ENSP00000369671.2:n.-18-62T>C |