Linked Data
ClinVar Variation Id:
234338
ClinVar RCV Id:
RCV000217293
dbSNP Id:
rs756933588
ExAC:
18:2929063 C / T
gnomAD v2:
18-2929063-C-T
gnomAD v3:
18-2929065-C-T
gnomAD v4:
18-2929065-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2929065C>T , CM000680.2:g.2929065C>T | GRCh38 |
| NC_000018.9:g.2929063C>T , CM000680.1:g.2929063C>T | GRCh37 |
| NC_000018.8:g.2919063C>T | NCBI36 |
| NG_007507.1:g.87883G>A , LRG_174:g.87883G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261596.9:c.1550G>A | ENSP00000261596.4:p.Arg517His | |
| ENST00000697039.1:c.1550G>A | ENSP00000513061.1:p.Arg517His | |
| ENST00000697040.1:c.1550G>A | ENSP00000513062.1:p.Arg517His | |
| ENST00000697041.1:c.245G>A | ENSP00000513063.1:p.Arg82His | |
| ENST00000697042.1:c.1550G>A | ENSP00000513064.1:p.Arg517His | |
| ENST00000677752.1:c.1550G>A MANE Select | ENSP00000504857.1:p.Arg517His | |
| ENST00000261596.8:c.1550G>A | ENSP00000261596.4:p.Arg517His | |
| NM_014646.2:c.1550G>A , LRG_174t1:c.1550G>A | NP_055461.1:p.Arg517His | |
| XM_005258177.3:c.1661G>A | XP_005258234.1:p.Arg554His | |
| XM_005258178.2:c.1550G>A | XP_005258235.1:p.Arg517His | |
| XM_005258179.3:c.1550G>A | XP_005258236.1:p.Arg517His | |
| XR_935074.1:n.1679G>A | ||
| XM_005258177.4:c.1661G>A | XP_005258234.1:p.Arg554His | |
| XM_005258178.3:c.1550G>A | XP_005258235.1:p.Arg517His | |
| XM_005258179.5:c.1550G>A | XP_005258236.1:p.Arg517His | |
| XM_017026098.1:c.1550G>A | XP_016881587.1:p.Arg517His | |
| XM_017026099.1:c.1550G>A | XP_016881588.1:p.Arg517His | |
| XR_935074.2:n.1724G>A | ||
| NM_001375808.1:c.1550G>A | NP_001362737.1:p.Arg517His | |
| NM_001375809.1:c.1550G>A | NP_001362738.1:p.Arg517His | |
| NM_001375808.2:c.1550G>A MANE Select | NP_001362737.1:p.Arg517His |