Linked Data
ClinVar Variation Id:
4883
ClinVar RCV Id:
RCV000005159
dbSNP Id:
rs74315509
ExAC:
22:20230069 C / T
gnomAD v2:
22-20230069-C-T
gnomAD v3:
22-20242546-C-T
gnomAD v4:
22-20242546-C-T
COSMIC:
COSM4137334
PubMed:
PMID:15532024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242546C>T , CM000684.2:g.20242546C>T | GRCh38 |
| NC_000022.10:g.20230069C>T , CM000684.1:g.20230069C>T | GRCh37 |
| NC_000022.9:g.18610069C>T | NCBI36 |
| NG_012176.1:g.30748G>A | |
| NG_012176.2:g.30748G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000043402.8:c.587G>A MANE Select | ENSP00000043402.7:p.Arg196His | |
| ENST00000043402.7:c.587G>A | ENSP00000043402.7:p.Arg196His | |
| ENST00000416372.5:c.646G>A | ||
| ENST00000425986.1:c.844G>A | ||
| NM_023004.5:c.587G>A | NP_075380.1:p.Arg196His | |
| NM_023004.6:c.587G>A MANE Select | NP_075380.1:p.Arg196His |