Linked Data
dbSNP Id:
rs2733825
ExAC:
3:120394604 T / A
gnomAD v2:
3-120394604-T-A
gnomAD v3:
3-120675757-T-A
gnomAD v4:
3-120675757-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120675757T>A , CM000665.2:g.120675757T>A | GRCh38 |
| NC_000003.11:g.120394604T>A , CM000665.1:g.120394604T>A | GRCh37 |
| NC_000003.10:g.121877294T>A | NCBI36 |
| NG_011957.1:g.11725A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.87+35A>T MANE Select | ENSP00000283871.5:n.87+35A>T | |
| ENST00000283871.9:c.87+35A>T | ENSP00000283871.5:n.87+35A>T | |
| ENST00000466528.5:n.113+35A>T | ||
| ENST00000476082.2:c.53+35A>T | ENSP00000419560.2:n.53+35A>T | |
| ENST00000480862.1:n.245+35A>T | ||
| ENST00000485313.5:n.195+35A>T | ||
| ENST00000488183.5:n.345+35A>T | ||
| NM_000187.3:c.87+35A>T | NP_000178.2:n.87+35A>T | |
| XM_005247412.1:c.87+35A>T | XP_005247469.1:n.87+35A>T | |
| XM_005247413.1:c.87+35A>T | XP_005247470.1:n.87+35A>T | |
| XM_005247414.3:c.87+35A>T | XP_005247471.1:n.87+35A>T | |
| XM_011512746.1:c.87+35A>T | XP_011511048.1:n.87+35A>T | |
| XM_005247412.2:c.87+35A>T | XP_005247469.1:n.87+35A>T | |
| XM_005247413.2:c.87+35A>T | XP_005247470.1:n.87+35A>T | |
| XM_005247414.5:c.87+35A>T | XP_005247471.1:n.87+35A>T | |
| XM_011512746.2:c.87+35A>T | XP_011511048.1:n.87+35A>T | |
| XM_017006277.2:c.-337+35A>T | XP_016861766.1:n.-337+35A>T | |
| NM_000187.4:c.87+35A>T MANE Select | NP_000178.2:n.87+35A>T |