Linked Data
ClinVar Variation Id:
127705
dbSNP Id:
rs121913322
ExAC:
19:1221319 C / A
gnomAD v2:
19-1221319-C-A
gnomAD v3:
19-1221320-C-A
gnomAD v4:
19-1221320-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1221320C>A , CM000681.2:g.1221320C>A | GRCh38 |
| NC_000019.9:g.1221319C>A , CM000681.1:g.1221319C>A | GRCh37 |
| NC_000019.8:g.1172319C>A | NCBI36 |
| NG_007460.2:g.36914C>A , LRG_319:g.36914C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.842C>A | ENSP00000490268.2:p.Pro281Gln | |
| ENST00000585748.3:c.470C>A | ENSP00000477641.2:p.Pro157Gln | |
| ENST00000585851.2:c.668C>A | ENSP00000467912.2:p.Pro223Gln | |
| ENST00000326873.12:c.842C>A MANE Select | ENSP00000324856.6:p.Pro281Gln | |
| ENST00000652231.1:c.842C>A | ENSP00000498804.1:p.Pro281Gln | |
| ENST00000326873.11:c.842C>A | ENSP00000324856.6:p.Pro281Gln | |
| ENST00000586243.5:c.842C>A | ENSP00000467240.2:p.Pro281Gln | |
| ENST00000586358.5:n.740C>A | ||
| ENST00000589152.5:n.932C>A | ||
| ENST00000591133.2:n.813C>A | ||
| NM_000455.4:c.842C>A , LRG_319t1:c.842C>A | NP_000446.1:p.Pro281Gln | |
| XM_005259617.1:c.842C>A | XP_005259674.1:p.Pro281Gln | |
| XM_005259618.3:c.842C>A | XP_005259675.1:p.Pro281Gln | |
| XM_011528209.1:c.620C>A | XP_011526511.1:p.Pro207Gln | |
| XR_936204.1:n.1467C>A | ||
| XM_005259617.3:c.842C>A | XP_005259674.1:p.Pro281Gln | |
| XM_011528209.2:c.620C>A | XP_011526511.1:p.Pro207Gln | |
| XR_001753738.2:n.1467C>A | ||
| XR_001753739.1:n.1467C>A | ||
| XR_001753740.2:n.1467C>A | ||
| NM_000455.5:c.842C>A MANE Select | NP_000446.1:p.Pro281Gln |