Linked Data
ClinVar Variation Id:
189127
ClinVar RCV Id:
RCV000169542
dbSNP Id:
rs397515518
ExAC:
3:120371438 C / A
gnomAD v2:
3-120371438-C-A
gnomAD v3:
3-120652591-C-A
gnomAD v4:
3-120652591-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120652591C>A , CM000665.2:g.120652591C>A | GRCh38 |
| NC_000003.11:g.120371438C>A , CM000665.1:g.120371438C>A | GRCh37 |
| NC_000003.10:g.121854128C>A | NCBI36 |
| NG_011957.1:g.34891G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.342+1G>T MANE Select | ENSP00000283871.5:n.342+1G>T | |
| ENST00000283871.9:c.342+1G>T | ENSP00000283871.5:n.342+1G>T | |
| ENST00000476082.2:c.219+1G>T | ENSP00000419560.2:n.219+1G>T | |
| ENST00000485313.5:n.450+1G>T | ||
| NM_000187.3:c.342+1G>T | NP_000178.2:n.342+1G>T | |
| XM_005247412.1:c.342+1G>T | XP_005247469.1:n.342+1G>T | |
| XM_005247413.1:c.342+1G>T | XP_005247470.1:n.342+1G>T | |
| XM_005247414.3:c.342+1G>T | XP_005247471.1:n.342+1G>T | |
| XM_011512746.1:c.342+1G>T | XP_011511048.1:n.342+1G>T | |
| XM_005247412.2:c.342+1G>T | XP_005247469.1:n.342+1G>T | |
| XM_005247413.2:c.342+1G>T | XP_005247470.1:n.342+1G>T | |
| XM_005247414.5:c.342+1G>T | XP_005247471.1:n.342+1G>T | |
| XM_011512746.2:c.342+1G>T | XP_011511048.1:n.342+1G>T | |
| XM_017006277.2:c.-82+1G>T | XP_016861766.1:n.-82+1G>T | |
| NM_000187.4:c.342+1G>T MANE Select | NP_000178.2:n.342+1G>T |