Linked Data
dbSNP Id:
rs776881864
ExAC:
3:120369570 C / A
gnomAD v2:
3-120369570-C-A
gnomAD v4:
3-120650723-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120650723C>A , CM000665.2:g.120650723C>A | GRCh38 |
| NC_000003.11:g.120369570C>A , CM000665.1:g.120369570C>A | GRCh37 |
| NC_000003.10:g.121852260C>A | NCBI36 |
| NG_011957.1:g.36759G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.434+51G>T MANE Select | ENSP00000283871.5:n.434+51G>T | |
| ENST00000283871.9:c.434+51G>T | ENSP00000283871.5:n.434+51G>T | |
| ENST00000476082.2:c.311+51G>T | ENSP00000419560.2:n.311+51G>T | |
| ENST00000492108.5:c.65+51G>T | ENSP00000419838.1:n.65+51G>T | |
| NM_000187.3:c.434+51G>T | NP_000178.2:n.434+51G>T | |
| XM_005247412.1:c.434+51G>T | XP_005247469.1:n.434+51G>T | |
| XM_005247413.1:c.434+51G>T | XP_005247470.1:n.434+51G>T | |
| XM_005247414.3:c.434+51G>T | XP_005247471.1:n.434+51G>T | |
| XM_011512746.1:c.434+51G>T | XP_011511048.1:n.434+51G>T | |
| XM_005247412.2:c.434+51G>T | XP_005247469.1:n.434+51G>T | |
| XM_005247413.2:c.434+51G>T | XP_005247470.1:n.434+51G>T | |
| XM_005247414.5:c.434+51G>T | XP_005247471.1:n.434+51G>T | |
| XM_011512746.2:c.434+51G>T | XP_011511048.1:n.434+51G>T | |
| XM_017006277.2:c.11+51G>T | XP_016861766.1:n.11+51G>T | |
| NM_000187.4:c.434+51G>T MANE Select | NP_000178.2:n.434+51G>T |