Linked Data
ClinVar Variation Id:
499152
ClinVar RCV Id:
RCV000593125
dbSNP Id:
rs201519981
ExAC:
3:119101159 G / A
gnomAD v2:
3-119101159-G-A
gnomAD v3:
3-119382312-G-A
gnomAD v4:
3-119382312-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119382312G>A , CM000665.2:g.119382312G>A | GRCh38 |
| NC_000003.11:g.119101159G>A , CM000665.1:g.119101159G>A | GRCh37 |
| NC_000003.10:g.120583849G>A | NCBI36 |
| NG_007665.2:g.92940G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.452G>A MANE Select | ENSP00000264245.4:p.Arg151Gln | |
| ENST00000264245.8:c.452G>A | ENSP00000264245.4:p.Arg151Gln | |
| ENST00000482743.1:c.365G>A | ENSP00000418429.1:p.Arg122Gln | |
| NM_020754.3:c.452G>A | NP_065805.2:p.Arg151Gln | |
| XM_005247671.3:c.359G>A | XP_005247728.1:p.Arg120Gln | |
| XM_006713714.2:c.452G>A | XP_006713777.1:p.Arg151Gln | |
| XM_006713714.3:c.452G>A | XP_006713777.1:p.Arg151Gln | |
| XM_017006955.1:c.-41G>A | XP_016862444.1:n.-41G>A | |
| NM_020754.4:c.452G>A MANE Select | NP_065805.2:p.Arg151Gln |