Linked Data
ClinVar Variation Id:
236140
dbSNP Id:
rs142253670
ExAC:
1:94473808 C / T
gnomAD v2:
1-94473808-C-T
gnomAD v3:
1-94008252-C-T
gnomAD v4:
1-94008252-C-T
COSMIC:
COSM3493453
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94008252C>T , CM000663.2:g.94008252C>T | GRCh38 |
| NC_000001.10:g.94473808C>T , CM000663.1:g.94473808C>T | GRCh37 |
| NC_000001.9:g.94246396C>T | NCBI36 |
| NG_009073.1:g.117898G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.5881G>A MANE Select | ENSP00000359245.3:p.Gly1961Arg | |
| ENST00000370225.3:c.5881G>A | ENSP00000359245.3:p.Gly1961Arg | |
| ENST00000465352.1:n.297G>A | ||
| ENST00000536513.5:c.2257G>A | ENSP00000439707.2:p.Gly753Arg | |
| NM_000350.2:c.5881G>A | NP_000341.2:p.Gly1961Arg | |
| NM_000350.3:c.5881G>A MANE Select | NP_000341.2:p.Gly1961Arg |