Linked Data
dbSNP Id:
rs748437340
ExAC:
3:120389324 C / G
gnomAD v2:
3-120389324-C-G
gnomAD v4:
3-120670477-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120670477C>G , CM000665.2:g.120670477C>G | GRCh38 |
| NC_000003.11:g.120389324C>G , CM000665.1:g.120389324C>G | GRCh37 |
| NC_000003.10:g.121872014C>G | NCBI36 |
| NG_011957.1:g.17005G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.232G>C MANE Select | ENSP00000283871.5:p.Glu78Gln | |
| ENST00000283871.9:c.232G>C | ENSP00000283871.5:p.Glu78Gln | |
| ENST00000466528.5:n.258G>C | ||
| ENST00000476082.2:c.109G>C | ENSP00000419560.2:p.Glu37Gln | |
| ENST00000485313.5:n.340G>C | ||
| ENST00000488183.5:n.490G>C | ||
| NM_000187.3:c.232G>C | NP_000178.2:p.Glu78Gln | |
| XM_005247412.1:c.232G>C | XP_005247469.1:p.Glu78Gln | |
| XM_005247413.1:c.232G>C | XP_005247470.1:p.Glu78Gln | |
| XM_005247414.3:c.232G>C | XP_005247471.1:p.Glu78Gln | |
| XM_011512746.1:c.232G>C | XP_011511048.1:p.Glu78Gln | |
| XM_005247412.2:c.232G>C | XP_005247469.1:p.Glu78Gln | |
| XM_005247413.2:c.232G>C | XP_005247470.1:p.Glu78Gln | |
| XM_005247414.5:c.232G>C | XP_005247471.1:p.Glu78Gln | |
| XM_011512746.2:c.232G>C | XP_011511048.1:p.Glu78Gln | |
| XM_017006277.2:c.-192G>C | XP_016861766.1:n.-192G>C | |
| NM_000187.4:c.232G>C MANE Select | NP_000178.2:p.Glu78Gln |