Linked Data
ClinVar Variation Id:
12096
dbSNP Id:
rs28934592
ExAC:
16:67470004 G / A
gnomAD v2:
16-67470004-G-A
gnomAD v3:
16-67436101-G-A
gnomAD v4:
16-67436101-G-A
PubMed:
PMID:9398712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436101G>A , CM000678.2:g.67436101G>A | GRCh38 |
| NC_000016.9:g.67470004G>A , CM000678.1:g.67470004G>A | GRCh37 |
| NC_000016.8:g.66027505G>A | NCBI36 |
| NG_011482.1:g.50086C>T | |
| NG_016549.1:g.9969G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.623G>A MANE Select | ENSP00000316786.5:p.Arg208His | |
| ENST00000326152.5:c.623G>A | ENSP00000316786.5:p.Arg208His | |
| ENST00000566606.1:c.601G>A | ENSP00000473429.1:n.601G>A | |
| ENST00000567684.2:n.486G>A | ||
| NM_000196.3:c.623G>A | NP_000187.3:p.Arg208His | |
| NM_000196.4:c.623G>A MANE Select | NP_000187.3:p.Arg208His |