Linked Data
ClinVar Variation Id:
1053011
dbSNP Id:
rs2112031730
gnomAD v4:
5-45645225-C-T
COSMIC:
COSM1068509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.45645225C>T , CM000667.2:g.45645225C>T | GRCh38 |
| NC_000005.9:g.45645327C>T , CM000667.1:g.45645327C>T | GRCh37 |
| NC_000005.8:g.45681084C>T | NCBI36 |
| NG_042183.1:g.55894G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303230.6:c.809G>A MANE Select | ENSP00000307342.4:p.Arg270Gln | |
| ENST00000637256.1:n.37G>A | ||
| ENST00000673735.1:c.809G>A | ENSP00000501107.1:p.Arg270Gln | |
| ENST00000303230.5:c.809G>A | ENSP00000307342.4:p.Arg270Gln | |
| ENST00000634658.1:c.809G>A | ENSP00000489134.1:p.Arg270Gln | |
| NM_021072.3:c.809G>A | NP_066550.2:p.Arg270Gln | |
| NM_021072.4:c.809G>A MANE Select | NP_066550.2:p.Arg270Gln |