Linked Data
ClinVar Variation Id:
1434313
dbSNP Id:
rs775595174
gnomAD v2:
19-1218483-G-C
gnomAD v4:
19-1218484-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1218484G>C , CM000681.2:g.1218484G>C | GRCh38 |
| NC_000019.9:g.1218483G>C , CM000681.1:g.1218483G>C | GRCh37 |
| NC_000019.8:g.1169483G>C | NCBI36 |
| NG_007460.2:g.34078G>C , LRG_319:g.34078G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.358G>C | ENSP00000490268.2:p.Glu120Gln | |
| ENST00000585748.3:c.-15G>C | ENSP00000477641.2:n.-15G>C | |
| ENST00000585851.2:c.291-1889G>C | ENSP00000467912.2:n.291-1889G>C | |
| ENST00000326873.12:c.358G>C MANE Select | ENSP00000324856.6:p.Glu120Gln | |
| ENST00000652231.1:c.358G>C | ENSP00000498804.1:p.Glu120Gln | |
| ENST00000326873.11:c.358G>C | ENSP00000324856.6:p.Glu120Gln | |
| ENST00000585748.2:c.-15G>C | ENSP00000477641.1:n.-15G>C | |
| ENST00000585851.1:c.291-1889G>C | ENSP00000467912.1:n.291-1889G>C | |
| ENST00000586243.5:c.358G>C | ENSP00000467240.2:p.Glu120Gln | |
| ENST00000586358.5:n.181G>C | ||
| ENST00000589152.5:n.448G>C | ||
| ENST00000593219.5:c.*183G>C | ENSP00000466610.1:n.*183G>C | |
| NM_000455.4:c.358G>C , LRG_319t1:c.358G>C | NP_000446.1:p.Glu120Gln | |
| XM_005259617.1:c.358G>C | XP_005259674.1:p.Glu120Gln | |
| XM_005259618.3:c.358G>C | XP_005259675.1:p.Glu120Gln | |
| XM_011528209.1:c.136G>C | XP_011526511.1:p.Glu46Gln | |
| XR_936204.1:n.983G>C | ||
| XM_005259617.3:c.358G>C | XP_005259674.1:p.Glu120Gln | |
| XM_011528209.2:c.136G>C | XP_011526511.1:p.Glu46Gln | |
| XR_001753738.2:n.983G>C | ||
| XR_001753739.1:n.983G>C | ||
| XR_001753740.2:n.983G>C | ||
| NM_000455.5:c.358G>C MANE Select | NP_000446.1:p.Glu120Gln |