Linked Data
ClinVar Variation Id:
282260
dbSNP Id:
rs767729255
ExAC:
1:94471031 C / T
gnomAD v2:
1-94471031-C-T
gnomAD v3:
1-94005475-C-T
gnomAD v4:
1-94005475-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94005475C>T , CM000663.2:g.94005475C>T | GRCh38 |
| NC_000001.10:g.94471031C>T , CM000663.1:g.94471031C>T | GRCh37 |
| NC_000001.9:g.94243619C>T | NCBI36 |
| NG_009073.1:g.120675G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6113G>A MANE Select | ENSP00000359245.3:p.Arg2038Gln | |
| ENST00000370225.3:c.6113G>A | ENSP00000359245.3:p.Arg2038Gln | |
| ENST00000465352.1:n.529G>A | ||
| ENST00000484388.1:n.227G>A | ||
| ENST00000536513.5:c.2489G>A | ENSP00000439707.2:p.Arg830Gln | |
| NM_000350.2:c.6113G>A | NP_000341.2:p.Arg2038Gln | |
| NM_000350.3:c.6113G>A MANE Select | NP_000341.2:p.Arg2038Gln |