Linked Data
ClinVar Variation Id:
3094745
ClinVar RCV Id:
RCV004394082
dbSNP Id:
rs201557946
ExAC:
4:81207618 G / A
gnomAD v2:
4-81207618-G-A
gnomAD v3:
4-80286464-G-A
gnomAD v4:
4-80286464-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286464G>A , CM000666.2:g.80286464G>A | GRCh38 |
| NC_000004.11:g.81207618G>A , CM000666.1:g.81207618G>A | GRCh37 |
| NC_000004.10:g.81426642G>A | NCBI36 |
| NG_029501.1:g.24877G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.599G>A MANE Select | ENSP00000311697.7:p.Arg200Gln | |
| ENST00000312465.11:c.599G>A | ENSP00000311697.7:p.Arg200Gln | |
| ENST00000456523.3:c.*123G>A | ENSP00000398353.3:n.*123G>A | |
| ENST00000503413.1:n.548G>A | ||
| ENST00000507780.1:c.342+11452G>A | ENSP00000423903.1:n.342+11452G>A | |
| NM_001291812.1:c.170G>A | NP_001278741.1:p.Arg57Gln | |
| NM_004464.3:c.599G>A | NP_004455.2:p.Arg200Gln | |
| NM_033143.2:c.*123G>A | NP_149134.1:n.*123G>A | |
| NM_001291812.2:c.170G>A | NP_001278741.1:p.Arg57Gln | |
| NM_004464.4:c.599G>A MANE Select | NP_004455.2:p.Arg200Gln |