Linked Data
ClinVar Variation Id:
8331
ClinVar RCV Id:
RCV000008833
RCV000524505
RCV000516668
RCV002265551
RCV002496308
RCV004018593
RCV004554588
dbSNP Id:
rs28936684
ExAC:
3:121980562 G / A
gnomAD v2:
3-121980562-G-A
gnomAD v4:
3-122261715-G-A
COSMIC:
COSM373124
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122261715G>A , CM000665.2:g.122261715G>A | GRCh38 |
| NC_000003.11:g.121980562G>A , CM000665.1:g.121980562G>A | GRCh37 |
| NC_000003.10:g.123463252G>A | NCBI36 |
| NG_009058.1:g.83033G>A | |
| NG_009058.2:g.83048G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.680G>A | ENSP00000418685.2:p.Arg227Gln | |
| ENST00000498619.4:c.680G>A | ENSP00000420194.1:p.Arg227Gln | |
| ENST00000638421.1:c.680G>A | ENSP00000492190.1:p.Arg227Gln | |
| ENST00000639785.2:c.680G>A MANE Select | ENSP00000491584.2:p.Arg227Gln | |
| ENST00000490131.5:c.680G>A | ENSP00000418685.1:p.Arg227Gln | |
| ENST00000498619.2:c.680G>A | ENSP00000420194.1:p.Arg227Gln | |
| NM_000388.3:c.680G>A | NP_000379.2:p.Arg227Gln | |
| NM_001178065.1:c.680G>A | NP_001171536.1:p.Arg227Gln | |
| XM_005247836.2:c.680G>A | XP_005247893.1:p.Arg227Gln | |
| XM_005247837.2:c.197G>A | XP_005247894.1:p.Arg66Gln | |
| XM_006713789.2:c.680G>A | XP_006713852.1:p.Arg227Gln | |
| XM_011513237.1:c.680G>A | XP_011511539.1:p.Arg227Gln | |
| XM_011513238.1:c.680G>A | XP_011511540.1:p.Arg227Gln | |
| XM_011513239.1:c.92G>A | XP_011511541.1:p.Arg31Gln | |
| XM_006713789.3:c.680G>A | XP_006713852.1:p.Arg227Gln | |
| XM_017007324.1:c.680G>A | XP_016862813.1:p.Arg227Gln | |
| XM_017007325.1:c.680G>A | XP_016862814.1:p.Arg227Gln | |
| NM_000388.4:c.680G>A MANE Select | NP_000379.3:p.Arg227Gln | |
| NM_001178065.2:c.680G>A | NP_001171536.2:p.Arg227Gln |