Linked Data
ClinVar Variation Id:
1672762
ClinVar RCV Id:
RCV002210699
dbSNP Id:
rs121909205
ExAC:
1:94586550 G / T
gnomAD v2:
1-94586550-G-T
gnomAD v4:
1-94120994-G-T
COSMIC:
COSM355348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94120994G>T , CM000663.2:g.94120994G>T | GRCh38 |
| NC_000001.10:g.94586550G>T , CM000663.1:g.94586550G>T | GRCh37 |
| NC_000001.9:g.94359138G>T | NCBI36 |
| NG_009073.1:g.5156C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.52C>A MANE Select | ENSP00000359245.3:p.Arg18= | |
| ENST00000649773.1:c.52C>A | ENSP00000496882.1:p.Arg18= | |
| ENST00000370225.3:c.52C>A | ENSP00000359245.3:p.Arg18= | |
| NM_000350.2:c.52C>A | NP_000341.2:p.Arg18= | |
| NM_000350.3:c.52C>A MANE Select | NP_000341.2:p.Arg18= |