Linked Data
ClinVar Variation Id:
877451
ClinVar RCV Id:
RCV001103174
dbSNP Id:
rs371852053
ExAC:
10:79793613 T / G
gnomAD v2:
10-79793613-T-G
gnomAD v3:
10-78033855-T-G
gnomAD v4:
10-78033855-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78033855T>G , CM000672.2:g.78033855T>G | GRCh38 |
| NC_000010.10:g.79793613T>G , CM000672.1:g.79793613T>G | GRCh37 |
| NC_000010.9:g.79463619T>G | NCBI36 |
| NG_012633.1:g.5096T>G | |
| NG_029648.1:g.686A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613865.5:c.-47T>G | ENSP00000478869.2:n.-47T>G | |
| ENST00000645440.1:c.-47T>G | ENSP00000496738.1:n.-47T>G | |
| ENST00000435275.5:c.-47T>G | ENSP00000415549.1:n.-47T>G | |
| ENST00000440692.5:c.-47T>G | ENSP00000414321.1:n.-47T>G | |
| ENST00000485708.6:n.12T>G | ||
| ENST00000613865.4:c.-47T>G | ENSP00000478869.1:n.-47T>G | |
| NM_001026.4:c.-47T>G | NP_001017.1:n.-47T>G | |
| NM_001142282.1:c.-47T>G | NP_001135754.1:n.-47T>G | |
| NM_001142283.1:c.-47T>G | NP_001135755.1:n.-47T>G | |
| NM_001142284.1:c.-47T>G | NP_001135756.1:n.-47T>G | |
| NM_001142285.1:c.-47T>G | NP_001135757.1:n.-47T>G | |
| NM_033022.3:c.-47T>G | NP_148982.1:n.-47T>G |