Linked Data
ClinVar Variation Id:
6606
ClinVar RCV Id:
RCV000006985
dbSNP Id:
rs121434416
gnomAD v4:
19-7555041-G-A
PubMed:
PMID:18313024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7555041G>A , CM000681.2:g.7555041G>A | GRCh38 |
| NC_000019.9:g.7619927G>A , CM000681.1:g.7619927G>A | GRCh37 |
| NC_000019.8:g.7525927G>A | NCBI36 |
| NG_013374.1:g.25890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.2783G>A MANE Select | ENSP00000473211.1:p.Arg928His | |
| ENST00000221249.10:c.2669G>A | ENSP00000221249.5:p.Arg890His | |
| ENST00000414982.7:c.2813G>A | ENSP00000407509.2:p.Arg938His | |
| ENST00000450331.7:c.2669G>A | ENSP00000394348.2:p.Arg890His | |
| ENST00000545201.6:c.2588G>A | ENSP00000443323.1:p.Arg863His | |
| ENST00000600737.5:c.2783G>A | ENSP00000473211.1:p.Arg928His | |
| NM_001166111.1:c.2813G>A | NP_001159583.1:p.Arg938His | |
| NM_001166112.1:c.2588G>A | NP_001159584.1:p.Arg863His | |
| NM_001166113.1:c.2669G>A | NP_001159585.1:p.Arg890His | |
| NM_001166114.1:c.2783G>A | NP_001159586.1:p.Arg928His | |
| NM_006702.4:c.2669G>A | NP_006693.3:p.Arg890His | |
| NM_001166111.2:c.2813G>A | NP_001159583.1:p.Arg938His | |
| NM_001166114.2:c.2783G>A MANE Select | NP_001159586.1:p.Arg928His | |
| NM_006702.5:c.2669G>A | NP_006693.3:p.Arg890His | |
| NM_001166112.2:c.2588G>A | NP_001159584.1:p.Arg863His |