Linked Data
dbSNP Id:
rs760532061
ExAC:
3:120389411 C / A
gnomAD v2:
3-120389411-C-A
gnomAD v4:
3-120670564-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670564C>A , CM000665.2:g.120670564C>A | GRCh38 |
| NC_000003.11:g.120389411C>A , CM000665.1:g.120389411C>A | GRCh37 |
| NC_000003.10:g.121872101C>A | NCBI36 |
| NG_011957.1:g.16918G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.177-32G>T MANE Select | ENSP00000283871.5:n.177-32G>T | |
| ENST00000283871.9:c.177-32G>T | ENSP00000283871.5:n.177-32G>T | |
| ENST00000466528.5:n.203-32G>T | ||
| ENST00000476082.2:c.54-32G>T | ENSP00000419560.2:n.54-32G>T | |
| ENST00000485313.5:n.285-32G>T | ||
| ENST00000488183.5:n.435-32G>T | ||
| NM_000187.3:c.177-32G>T | NP_000178.2:n.177-32G>T | |
| XM_005247412.1:c.177-32G>T | XP_005247469.1:n.177-32G>T | |
| XM_005247413.1:c.177-32G>T | XP_005247470.1:n.177-32G>T | |
| XM_005247414.3:c.177-32G>T | XP_005247471.1:n.177-32G>T | |
| XM_011512746.1:c.177-32G>T | XP_011511048.1:n.177-32G>T | |
| XM_005247412.2:c.177-32G>T | XP_005247469.1:n.177-32G>T | |
| XM_005247413.2:c.177-32G>T | XP_005247470.1:n.177-32G>T | |
| XM_005247414.5:c.177-32G>T | XP_005247471.1:n.177-32G>T | |
| XM_011512746.2:c.177-32G>T | XP_011511048.1:n.177-32G>T | |
| XM_017006277.2:c.-247-32G>T | XP_016861766.1:n.-247-32G>T | |
| NM_000187.4:c.177-32G>T MANE Select | NP_000178.2:n.177-32G>T |