Linked Data
ClinVar Variation Id:
429669
ClinVar RCV Id:
RCV002527084
dbSNP Id:
rs748282723
ExAC:
20:42788589 C / T
gnomAD v2:
20-42788589-C-T
gnomAD v3:
20-44159949-C-T
gnomAD v4:
20-44159949-C-T
COSMIC:
COSM5515758
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44159949C>T , CM000682.2:g.44159949C>T | GRCh38 |
| NC_000020.10:g.42788589C>T , CM000682.1:g.42788589C>T | GRCh37 |
| NC_000020.9:g.42222003C>T | NCBI36 |
| NG_031867.1:g.32630G>A , LRG_394:g.32630G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372980.4:c.838G>A MANE Select | ENSP00000362071.3:p.Glu280Lys | |
| ENST00000372980.3:c.838G>A | ENSP00000362071.3:p.Glu280Lys | |
| NM_020433.4:c.838G>A , LRG_394t1:c.838G>A | NP_065166.2:p.Glu280Lys | |
| XM_006723832.2:c.838G>A | XP_006723895.1:p.Glu280Lys | |
| NM_020433.5:c.838G>A MANE Select | NP_065166.2:p.Glu280Lys |