Linked Data
ClinVar Variation Id:
1020932
ClinVar RCV Id:
RCV001320597
dbSNP Id:
rs368457541
ExAC:
1:94522185 C / T
gnomAD v2:
1-94522185-C-T
gnomAD v3:
1-94056629-C-T
gnomAD v4:
1-94056629-C-T
COSMIC:
COSM1345006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056629C>T , CM000663.2:g.94056629C>T | GRCh38 |
| NC_000001.10:g.94522185C>T , CM000663.1:g.94522185C>T | GRCh37 |
| NC_000001.9:g.94294773C>T | NCBI36 |
| NG_009073.1:g.69521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2354G>A MANE Select | ENSP00000359245.3:p.Arg785His | |
| ENST00000649773.1:c.2161-1314G>A | ENSP00000496882.1:n.2161-1314G>A | |
| ENST00000370225.3:c.2354G>A | ENSP00000359245.3:p.Arg785His | |
| ENST00000536513.5:c.-65+6545G>A | ENSP00000439707.2:n.-65+6545G>A | |
| NM_000350.2:c.2354G>A | NP_000341.2:p.Arg785His | |
| NM_000350.3:c.2354G>A MANE Select | NP_000341.2:p.Arg785His |