Linked Data
ClinVar Variation Id:
30593
ClinVar RCV Id:
RCV000023558
dbSNP Id:
rs146973734
ExAC:
12:7842985 C / T
gnomAD v2:
12-7842985-C-T
gnomAD v3:
12-7690389-C-T
gnomAD v4:
12-7690389-C-T
PubMed:
PMID:19864492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7690389C>T , CM000674.2:g.7690389C>T | GRCh38 |
| NC_000012.11:g.7842985C>T , CM000674.1:g.7842985C>T | GRCh37 |
| NC_000012.10:g.7734252C>T | NCBI36 |
| NG_028167.1:g.10376G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329913.4:c.584G>A MANE Select | ENSP00000331745.3:p.Arg195Gln | |
| ENST00000329913.3:c.584G>A | ENSP00000331745.3:p.Arg195Gln | |
| NM_020634.1:c.584G>A | NP_065685.1:p.Arg195Gln | |
| NM_020634.2:c.584G>A | NP_065685.1:p.Arg195Gln | |
| NM_020634.3:c.584G>A MANE Select | NP_065685.1:p.Arg195Gln |