Linked Data
ClinVar Variation Id:
2183241
ClinVar RCV Id:
RCV002615414
dbSNP Id:
rs773456179
ExAC:
17:42992841 C / T
gnomAD v2:
17-42992841-C-T
gnomAD v3:
17-44915473-C-T
gnomAD v4:
17-44915473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44915473C>T , CM000679.2:g.44915473C>T | GRCh38 |
| NC_000017.10:g.42992841C>T , CM000679.1:g.42992841C>T | GRCh37 |
| NC_000017.9:g.40348367C>T | NCBI36 |
| NG_008401.1:g.5074G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.14G>A | ENSP00000253408.5:p.Arg5His | |
| ENST00000435360.8:c.14G>A | ENSP00000403962.1:p.Arg5His | |
| ENST00000253408.10:c.14G>A | ENSP00000253408.5:p.Arg5His | |
| ENST00000435360.7:c.14G>A | ENSP00000403962.1:p.Arg5His | |
| ENST00000586793.6:c.14G>A | ENSP00000468500.2:p.Arg5His | |
| ENST00000588735.3:c.14G>A MANE Select | ENSP00000466598.2:p.Arg5His | |
| ENST00000591327.2:n.27G>A | ||
| ENST00000592320.6:c.14G>A | ENSP00000465320.1:p.Arg5His | |
| ENST00000638281.1:c.14G>A | ENSP00000491088.1:p.Arg5His | |
| ENST00000639277.1:c.14G>A | ENSP00000492432.1:p.Arg5His | |
| ENST00000640552.1:n.28G>A | ||
| ENST00000253408.9:c.14G>A | ENSP00000253408.4:p.Arg5His | |
| ENST00000376990.8:c.14G>A | ENSP00000366189.4:p.Arg5His | |
| ENST00000435360.6:c.14G>A | ENSP00000403962.1:p.Arg5His | |
| ENST00000585728.5:c.14G>A | ENSP00000465208.1:p.Arg5His | |
| ENST00000586793.5:c.14G>A | ENSP00000468500.1:p.Arg5His | |
| ENST00000588037.1:c.14G>A | ENSP00000466163.1:p.Arg5His | |
| ENST00000588316.1:c.14G>A | ENSP00000465629.1:p.Arg5His | |
| ENST00000588735.1:c.14G>A | ENSP00000466598.1:p.Arg5His | |
| ENST00000588957.5:c.-272+344G>A | ENSP00000465565.1:n.-272+344G>A | |
| ENST00000591327.1:n.28G>A | ||
| ENST00000592320.5:c.14G>A | ENSP00000465320.1:p.Arg5His | |
| ENST00000593179.1:c.14G>A | ENSP00000467106.1:p.Arg5His | |
| NM_001131019.2:c.14G>A | NP_001124491.1:p.Arg5His | |
| NM_001242376.1:c.14G>A | NP_001229305.1:p.Arg5His | |
| NM_002055.4:c.14G>A | NP_002046.1:p.Arg5His | |
| NM_001363846.1:c.14G>A | NP_001350775.1:p.Arg5His | |
| XM_024450690.1:c.14G>A | XP_024306458.1:p.Arg5His | |
| XM_024450691.1:c.14G>A | XP_024306459.1:p.Arg5His | |
| XM_024450692.1:c.14G>A | XP_024306460.1:p.Arg5His | |
| XM_024450693.1:c.14G>A | XP_024306461.1:p.Arg5His | |
| NM_002055.5:c.14G>A MANE Select | NP_002046.1:p.Arg5His | |
| NM_001131019.3:c.14G>A | NP_001124491.1:p.Arg5His | |
| NM_001242376.2:c.14G>A | NP_001229305.1:p.Arg5His | |
| NM_001242376.3:c.14G>A | NP_001229305.1:p.Arg5His | |
| NM_001363846.2:c.14G>A | NP_001350775.1:p.Arg5His |