Linked Data
dbSNP Id:
rs748437340
ExAC:
3:120389324 C / T
gnomAD v2:
3-120389324-C-T
gnomAD v3:
3-120670477-C-T
gnomAD v4:
3-120670477-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670477C>T , CM000665.2:g.120670477C>T | GRCh38 |
| NC_000003.11:g.120389324C>T , CM000665.1:g.120389324C>T | GRCh37 |
| NC_000003.10:g.121872014C>T | NCBI36 |
| NG_011957.1:g.17005G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.232G>A MANE Select | ENSP00000283871.5:p.Glu78Lys | |
| ENST00000283871.9:c.232G>A | ENSP00000283871.5:p.Glu78Lys | |
| ENST00000466528.5:n.258G>A | ||
| ENST00000476082.2:c.109G>A | ENSP00000419560.2:p.Glu37Lys | |
| ENST00000485313.5:n.340G>A | ||
| ENST00000488183.5:n.490G>A | ||
| NM_000187.3:c.232G>A | NP_000178.2:p.Glu78Lys | |
| XM_005247412.1:c.232G>A | XP_005247469.1:p.Glu78Lys | |
| XM_005247413.1:c.232G>A | XP_005247470.1:p.Glu78Lys | |
| XM_005247414.3:c.232G>A | XP_005247471.1:p.Glu78Lys | |
| XM_011512746.1:c.232G>A | XP_011511048.1:p.Glu78Lys | |
| XM_005247412.2:c.232G>A | XP_005247469.1:p.Glu78Lys | |
| XM_005247413.2:c.232G>A | XP_005247470.1:p.Glu78Lys | |
| XM_005247414.5:c.232G>A | XP_005247471.1:p.Glu78Lys | |
| XM_011512746.2:c.232G>A | XP_011511048.1:p.Glu78Lys | |
| XM_017006277.2:c.-192G>A | XP_016861766.1:n.-192G>A | |
| NM_000187.4:c.232G>A MANE Select | NP_000178.2:p.Glu78Lys |