Linked Data
ClinVar Variation Id:
872664
dbSNP Id:
rs772241737
ExAC:
3:190126157 G / A
gnomAD v2:
3-190126157-G-A
gnomAD v3:
3-190408368-G-A
gnomAD v4:
3-190408368-G-A
COSMIC:
COSM4672683
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408368G>A , CM000665.2:g.190408368G>A | GRCh38 |
| NC_000003.11:g.190126157G>A , CM000665.1:g.190126157G>A | GRCh37 |
| NC_000003.10:g.191608851G>A | NCBI36 |
| NG_008149.1:g.25317G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.437G>A MANE Select | ENSP00000264734.3:p.Arg146His | |
| ENST00000456423.2:c.115-1535G>A | ENSP00000414136.2:n.115-1535G>A | |
| ENST00000264734.2:c.647G>A | ENSP00000264734.2:p.Arg216His | |
| ENST00000456423.1:c.325-1535G>A | ENSP00000414136.1:n.325-1535G>A | |
| NM_006580.3:c.647G>A | NP_006571.1:p.Arg216His | |
| NM_001378492.1:c.437G>A | NP_001365421.1:p.Arg146His | |
| NM_001378493.1:c.437G>A | NP_001365422.1:p.Arg146His | |
| NM_006580.4:c.437G>A MANE Select | NP_006571.2:p.Arg146His |