Linked Data
ClinVar Variation Id:
316434
dbSNP Id:
rs886051266
gnomAD v3:
15-48810963-G-C
gnomAD v4:
15-48810963-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48810963G>C , CM000677.2:g.48810963G>C | GRCh38 |
| NC_000015.9:g.49103160G>C , CM000677.1:g.49103160G>C | GRCh37 |
| NC_000015.8:g.46890452G>C | NCBI36 |
| NG_027518.1:g.5184C>G | |
| NG_027518.2:g.5184C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380950.7:c.-10C>G MANE Select | ENSP00000370337.2:n.-10C>G | |
| ENST00000325747.9:c.-10C>G | ENSP00000321000.5:n.-10C>G | |
| ENST00000380950.6:c.-10C>G | ENSP00000370337.2:n.-10C>G | |
| ENST00000399334.7:c.-10C>G | ENSP00000382271.3:n.-10C>G | |
| ENST00000559444.1:n.117C>G | ||
| ENST00000559630.1:n.114C>G | ||
| ENST00000560322.5:c.-10C>G | ENSP00000453440.1:n.-10C>G | |
| NM_001194998.1:c.-10C>G | NP_001181927.1:n.-10C>G | |
| NM_014985.3:c.-10C>G | NP_055800.2:n.-10C>G | |
| XM_011521373.1:c.-10C>G | XP_011519675.1:n.-10C>G | |
| XM_011521374.1:c.-10C>G | XP_011519676.1:n.-10C>G | |
| XM_011521375.1:c.-10C>G | XP_011519677.1:n.-10C>G | |
| XM_011521376.1:c.-10C>G | XP_011519678.1:n.-10C>G | |
| XM_011521377.1:c.-10C>G | XP_011519679.1:n.-10C>G | |
| XM_011521378.1:c.-10C>G | XP_011519680.1:n.-10C>G | |
| XM_011521379.1:c.-10C>G | XP_011519681.1:n.-10C>G | |
| XR_931769.1:n.956C>G | ||
| XR_931770.1:n.956C>G | ||
| XR_931771.1:n.956C>G | ||
| XR_931772.1:n.956C>G | ||
| XR_931773.1:n.956C>G | ||
| XR_931774.1:n.956C>G | ||
| XR_931775.1:n.956C>G | ||
| XM_011521373.3:c.-10C>G | XP_011519675.1:n.-10C>G | |
| XM_011521374.3:c.-10C>G | XP_011519676.1:n.-10C>G | |
| XM_011521375.3:c.-10C>G | XP_011519677.1:n.-10C>G | |
| XM_011521378.3:c.-10C>G | XP_011519680.1:n.-10C>G | |
| XM_011521379.3:c.-10C>G | XP_011519681.1:n.-10C>G | |
| XM_017022016.2:c.-10C>G | XP_016877505.1:n.-10C>G | |
| XM_024449875.1:c.-10C>G | XP_024305643.1:n.-10C>G | |
| XR_001751153.2:n.942C>G | ||
| XR_931769.3:n.942C>G | ||
| XR_931770.3:n.942C>G | ||
| XR_931775.3:n.942C>G | ||
| NM_001194998.2:c.-10C>G MANE Select | NP_001181927.1:n.-10C>G | |
| NM_014985.4:c.-10C>G | NP_055800.2:n.-10C>G |