Linked Data
ClinVar Variation Id:
16875
ClinVar RCV Id:
RCV000018371
dbSNP Id:
rs121909602
ExAC:
19:36142204 G / A
gnomAD v2:
19-36142204-G-A
gnomAD v4:
19-35651302-G-A
PubMed:
PMID:18499082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35651302G>A , CM000681.2:g.35651302G>A | GRCh38 |
| NC_000019.9:g.36142204G>A , CM000681.1:g.36142204G>A | GRCh37 |
| NC_000019.8:g.40834044G>A | NCBI36 |
| NG_012193.1:g.8050G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592141.6:c.59G>A | ENSP00000466818.2:p.Arg20His | |
| ENST00000649813.2:c.59G>A MANE Select | ENSP00000497926.1:p.Arg20His | |
| ENST00000652250.1:c.59G>A | ENSP00000498883.1:p.Arg20His | |
| ENST00000246554.7:c.59G>A | ENSP00000246554.2:p.Arg20His | |
| ENST00000392201.1:c.59G>A | ENSP00000376037.2:p.Arg20His | |
| ENST00000590618.1:c.58G>A | ||
| ENST00000592141.5:c.59G>A | ENSP00000466818.2:p.Arg20His | |
| NM_001863.4:c.59G>A | NP_001854.1:p.Arg20His | |
| NM_001863.5:c.59G>A MANE Select | NP_001854.1:p.Arg20His |