Linked Data
ClinVar Variation Id:
342742
ClinVar RCV Id:
RCV000282585
dbSNP Id:
rs781667761
ExAC:
3:120357432 T / C
gnomAD v2:
3-120357432-T-C
gnomAD v4:
3-120638585-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120638585T>C , CM000665.2:g.120638585T>C | GRCh38 |
| NC_000003.11:g.120357432T>C , CM000665.1:g.120357432T>C | GRCh37 |
| NC_000003.10:g.121840122T>C | NCBI36 |
| NG_011957.1:g.48897A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.880-4A>G MANE Select | ENSP00000283871.5:n.880-4A>G | |
| ENST00000283871.9:c.880-4A>G | ENSP00000283871.5:n.880-4A>G | |
| ENST00000470321.1:n.220-4A>G | ||
| ENST00000475447.2:c.307+3004A>G | ||
| ENST00000492108.5:c.285+3004A>G | ENSP00000419838.1:n.285+3004A>G | |
| ENST00000494453.1:c.300-4A>G | ||
| NM_000187.3:c.880-4A>G | NP_000178.2:n.880-4A>G | |
| XM_005247412.1:c.655-4A>G | XP_005247469.1:n.655-4A>G | |
| XM_005247413.1:c.880-4A>G | XP_005247470.1:n.880-4A>G | |
| XM_011512746.1:c.879+3004A>G | XP_011511048.1:n.879+3004A>G | |
| XM_005247412.2:c.655-4A>G | XP_005247469.1:n.655-4A>G | |
| XM_005247413.2:c.880-4A>G | XP_005247470.1:n.880-4A>G | |
| XM_011512746.2:c.879+3004A>G | XP_011511048.1:n.879+3004A>G | |
| XM_017006277.2:c.457-4A>G | XP_016861766.1:n.457-4A>G | |
| NM_000187.4:c.880-4A>G MANE Select | NP_000178.2:n.880-4A>G |