Linked Data
ClinVar Variation Id:
1324604
ClinVar RCV Id:
RCV002471164
dbSNP Id:
rs2072600840
gnomAD v4:
20-44160282-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44160282C>T , CM000682.2:g.44160282C>T | GRCh38 |
| NC_000020.10:g.42788922C>T , CM000682.1:g.42788922C>T | GRCh37 |
| NC_000020.9:g.42222336C>T | NCBI36 |
| NG_031867.1:g.32297G>A , LRG_394:g.32297G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.505G>A MANE Select | ENSP00000362071.3:p.Glu169Lys | |
| ENST00000372980.3:c.505G>A | ENSP00000362071.3:p.Glu169Lys | |
| NM_020433.4:c.505G>A , LRG_394t1:c.505G>A | NP_065166.2:p.Glu169Lys | |
| XM_006723832.2:c.505G>A | XP_006723895.1:p.Glu169Lys | |
| NM_020433.5:c.505G>A MANE Select | NP_065166.2:p.Glu169Lys |