Linked Data
ClinVar Variation Id:
195469
ClinVar RCV Id:
RCV000176045
dbSNP Id:
rs142687030
ExAC:
16:2339460 C / T
gnomAD v2:
16-2339460-C-T
gnomAD v3:
16-2289459-C-T
gnomAD v4:
16-2289459-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2289459C>T , CM000678.2:g.2289459C>T | GRCh38 |
| NC_000016.9:g.2339460C>T , CM000678.1:g.2339460C>T | GRCh37 |
| NC_000016.8:g.2279461C>T | NCBI36 |
| NG_011790.1:g.56288G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.2675G>A MANE Select | ENSP00000301732.5:p.Arg892His | |
| ENST00000301732.9:c.2675G>A | ENSP00000301732.5:p.Arg892His | |
| ENST00000382381.7:c.2501G>A | ENSP00000371818.3:p.Arg834His | |
| ENST00000563623.5:n.3238G>A | ||
| NM_001089.2:c.2675G>A | NP_001080.2:p.Arg892His | |
| NM_001089.3:c.2675G>A MANE Select | NP_001080.2:p.Arg892His |