Linked Data
ClinVar Variation Id:
3038521
ClinVar RCV Id:
RCV003921941
dbSNP Id:
rs139654136
ExAC:
12:53680473 G / A
gnomAD v2:
12-53680473-G-A
gnomAD v3:
12-53286689-G-A
gnomAD v4:
12-53286689-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53286689G>A , CM000674.2:g.53286689G>A | GRCh38 |
| NC_000012.11:g.53680473G>A , CM000674.1:g.53680473G>A | GRCh37 |
| NC_000012.10:g.51966740G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257934.9:c.3953G>A MANE Select | ENSP00000257934.4:p.Arg1318Gln | |
| ENST00000257934.8:c.3953G>A | ENSP00000257934.4:p.Arg1318Gln | |
| ENST00000535123.6:n.851-1283G>A | ||
| ENST00000552462.1:c.3953G>A | ENSP00000449831.1:p.Arg1318Gln | |
| ENST00000552671.5:c.*3884G>A | ENSP00000447054.1:n.*3884G>A | |
| ENST00000553016.5:n.583-1283G>A | ||
| NM_012291.4:c.3953G>A | NP_036423.4:p.Arg1318Gln | |
| XM_006719705.2:c.3953G>A | XP_006719768.1:p.Arg1318Gln | |
| XM_011539024.1:c.3953G>A | XP_011537326.1:p.Arg1318Gln | |
| XM_011539025.1:c.3953G>A | XP_011537327.1:p.Arg1318Gln | |
| XR_944842.1:n.3312-1283G>A | ||
| XM_006719705.3:c.3953G>A | XP_006719768.1:p.Arg1318Gln | |
| XM_011539024.2:c.3953G>A | XP_011537326.1:p.Arg1318Gln | |
| XM_011539025.2:c.3953G>A | XP_011537327.1:p.Arg1318Gln | |
| XM_017020253.1:c.2978G>A | XP_016875742.1:p.Arg993Gln | |
| XR_001748927.1:n.3321-1283G>A | ||
| NM_012291.5:c.3953G>A MANE Select | NP_036423.4:p.Arg1318Gln |