Linked Data
ClinVar Variation Id:
370979
ClinVar RCV Id:
RCV000409868
dbSNP Id:
rs760206323
ExAC:
3:120351993 C / A
gnomAD v2:
3-120351993-C-A
gnomAD v4:
3-120633146-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120633146C>A , CM000665.2:g.120633146C>A | GRCh38 |
| NC_000003.11:g.120351993C>A , CM000665.1:g.120351993C>A | GRCh37 |
| NC_000003.10:g.121834683C>A | NCBI36 |
| NG_011957.1:g.54336G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.1188+1G>T MANE Select | ENSP00000283871.5:n.1188+1G>T | |
| ENST00000283871.9:c.1188+1G>T | ENSP00000283871.5:n.1188+1G>T | |
| ENST00000492108.5:c.467+1G>T | ENSP00000419838.1:n.467+1G>T | |
| NM_000187.3:c.1188+1G>T | NP_000178.2:n.1188+1G>T | |
| XM_005247412.1:c.963+1G>T | XP_005247469.1:n.963+1G>T | |
| XM_005247412.2:c.963+1G>T | XP_005247469.1:n.963+1G>T | |
| XM_017006277.2:c.765+1G>T | XP_016861766.1:n.765+1G>T | |
| NM_000187.4:c.1188+1G>T MANE Select | NP_000178.2:n.1188+1G>T |