Linked Data
dbSNP Id:
rs182510026
ExAC:
3:120389269 G / A
gnomAD v2:
3-120389269-G-A
gnomAD v4:
3-120670422-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670422G>A , CM000665.2:g.120670422G>A | GRCh38 |
| NC_000003.11:g.120389269G>A , CM000665.1:g.120389269G>A | GRCh37 |
| NC_000003.10:g.121871959G>A | NCBI36 |
| NG_011957.1:g.17060C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.282+5C>T MANE Select | ENSP00000283871.5:n.282+5C>T | |
| ENST00000283871.9:c.282+5C>T | ENSP00000283871.5:n.282+5C>T | |
| ENST00000466528.5:n.313C>T | ||
| ENST00000476082.2:c.159+5C>T | ENSP00000419560.2:n.159+5C>T | |
| ENST00000485313.5:n.390+5C>T | ||
| ENST00000488183.5:n.540+5C>T | ||
| NM_000187.3:c.282+5C>T | NP_000178.2:n.282+5C>T | |
| XM_005247412.1:c.282+5C>T | XP_005247469.1:n.282+5C>T | |
| XM_005247413.1:c.282+5C>T | XP_005247470.1:n.282+5C>T | |
| XM_005247414.3:c.282+5C>T | XP_005247471.1:n.282+5C>T | |
| XM_011512746.1:c.282+5C>T | XP_011511048.1:n.282+5C>T | |
| XM_005247412.2:c.282+5C>T | XP_005247469.1:n.282+5C>T | |
| XM_005247413.2:c.282+5C>T | XP_005247470.1:n.282+5C>T | |
| XM_005247414.5:c.282+5C>T | XP_005247471.1:n.282+5C>T | |
| XM_011512746.2:c.282+5C>T | XP_011511048.1:n.282+5C>T | |
| XM_017006277.2:c.-142+5C>T | XP_016861766.1:n.-142+5C>T | |
| NM_000187.4:c.282+5C>T MANE Select | NP_000178.2:n.282+5C>T |