Linked Data
ClinVar Variation Id:
35787
dbSNP Id:
rs193922432
ExAC:
3:121975948 G / A
gnomAD v2:
3-121975948-G-A
gnomAD v3:
3-122257101-G-A
gnomAD v4:
3-122257101-G-A
COSMIC:
COSM727902
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122257101G>A , CM000665.2:g.122257101G>A | GRCh38 |
| NC_000003.11:g.121975948G>A , CM000665.1:g.121975948G>A | GRCh37 |
| NC_000003.10:g.123458638G>A | NCBI36 |
| NG_009058.1:g.78419G>A | |
| NG_009058.2:g.78434G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.206G>A | ENSP00000418685.2:p.Arg69His | |
| ENST00000498619.4:c.206G>A | ENSP00000420194.1:p.Arg69His | |
| ENST00000638296.1:n.125G>A | ||
| ENST00000638421.1:c.206G>A | ENSP00000492190.1:p.Arg69His | |
| ENST00000639785.2:c.206G>A MANE Select | ENSP00000491584.2:p.Arg69His | |
| ENST00000490131.5:c.206G>A | ENSP00000418685.1:p.Arg69His | |
| ENST00000490186.1:n.65G>A | ||
| ENST00000498619.2:c.206G>A | ENSP00000420194.1:p.Arg69His | |
| NM_000388.3:c.206G>A | NP_000379.2:p.Arg69His | |
| NM_001178065.1:c.206G>A | NP_001171536.1:p.Arg69His | |
| XM_005247836.2:c.206G>A | XP_005247893.1:p.Arg69His | |
| XM_005247837.2:c.9+2727G>A | XP_005247894.1:n.9+2727G>A | |
| XM_006713789.2:c.206G>A | XP_006713852.1:p.Arg69His | |
| XM_011513237.1:c.206G>A | XP_011511539.1:p.Arg69His | |
| XM_011513238.1:c.206G>A | XP_011511540.1:p.Arg69His | |
| XM_006713789.3:c.206G>A | XP_006713852.1:p.Arg69His | |
| XM_017007324.1:c.206G>A | XP_016862813.1:p.Arg69His | |
| XM_017007325.1:c.206G>A | XP_016862814.1:p.Arg69His | |
| NM_000388.4:c.206G>A MANE Select | NP_000379.3:p.Arg69His | |
| NM_001178065.2:c.206G>A | NP_001171536.2:p.Arg69His |