Linked Data
ClinVar Variation Id:
430498
ClinVar RCV Id:
RCV000493858
dbSNP Id:
rs1131691995
gnomAD v2:
20-32031375-C-T
gnomAD v3:
20-33443569-C-T
gnomAD v4:
20-33443569-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33443569C>T , CM000682.2:g.33443569C>T | GRCh38 |
| NC_000020.10:g.32031375C>T , CM000682.1:g.32031375C>T | GRCh37 |
| NC_000020.9:g.31495036C>T | NCBI36 |
| NG_011622.1:g.5324G>A , LRG_332:g.5324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217381.3:c.52G>A MANE Select | ENSP00000217381.2:p.Gly18Arg | |
| ENST00000217381.2:c.52G>A | ENSP00000217381.2:p.Gly18Arg | |
| NM_003098.2:c.52G>A , LRG_332t1:c.52G>A | NP_003089.1:p.Gly18Arg | |
| XM_005260517.1:c.52G>A | XP_005260574.1:p.Gly18Arg | |
| XM_011529007.1:c.52G>A | XP_011527309.1:p.Gly18Arg | |
| XM_011529008.1:c.52G>A | XP_011527310.1:p.Gly18Arg | |
| XR_936612.1:n.285G>A | ||
| NM_003098.3:c.52G>A MANE Select | NP_003089.1:p.Gly18Arg |