Linked Data
ClinVar Variation Id:
764935
ClinVar RCV Id:
RCV000943303
dbSNP Id:
rs147005963
ExAC:
1:197062204 C / T
gnomAD v2:
1-197062204-C-T
gnomAD v3:
1-197093074-C-T
gnomAD v4:
1-197093074-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197093074C>T , CM000663.2:g.197093074C>T | GRCh38 |
| NC_000001.10:g.197062204C>T , CM000663.1:g.197062204C>T | GRCh37 |
| NC_000001.9:g.195328827C>T | NCBI36 |
| NG_015867.1:g.58621G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2559G>A | ||
| ENST00000367409.9:c.9272G>A MANE Select | ENSP00000356379.4:p.Arg3091His | |
| ENST00000680265.1:c.9494G>A | ENSP00000505384.1:p.Arg3165His | |
| ENST00000680710.1:c.9272G>A | ENSP00000506676.1:p.Arg3091His | |
| ENST00000294732.11:c.4517G>A | ENSP00000294732.7:p.Arg1506His | |
| ENST00000367408.5:c.2267G>A | ENSP00000356378.1:p.Arg756His | |
| ENST00000367409.8:c.9272G>A | ENSP00000356379.4:p.Arg3091His | |
| ENST00000612785.1:c.3230G>A | ENSP00000479244.1:p.Arg1077His | |
| NM_001206846.1:c.4517G>A | NP_001193775.1:p.Arg1506His | |
| NM_018136.4:c.9272G>A | NP_060606.3:p.Arg3091His | |
| NM_018136.5:c.9272G>A MANE Select | NP_060606.3:p.Arg3091His | |
| NM_001206846.2:c.4517G>A | NP_001193775.1:p.Arg1506His |