Linked Data
ClinVar Variation Id:
217329
ClinVar RCV Id:
RCV000203364
dbSNP Id:
rs864309682
gnomAD v2:
22-27003917-C-T
gnomAD v4:
22-26607953-C-T
PubMed:
PMID:26694549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26607953C>T , CM000684.2:g.26607953C>T | GRCh38 |
| NC_000022.10:g.27003917C>T , CM000684.1:g.27003917C>T | GRCh37 |
| NC_000022.9:g.25333917C>T | NCBI36 |
| NG_009826.1:g.15075G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647569.1:n.180G>A | ||
| ENST00000647684.1:c.368G>A MANE Select | ENSP00000497249.1:p.Arg123His | |
| ENST00000215939.2:c.368G>A | ENSP00000215939.2:p.Arg123His | |
| NM_001887.3:c.368G>A | NP_001878.1:p.Arg123His | |
| XM_011529899.1:c.368G>A | XP_011528201.1:p.Arg123His | |
| NM_001887.4:c.368G>A MANE Select | NP_001878.1:p.Arg123His | |
| XM_011529899.3:c.368G>A | XP_011528201.1:p.Arg123His |