Linked Data
ClinVar Variation Id:
2585291
ClinVar RCV Id:
RCV003337907
dbSNP Id:
rs1412416225
gnomAD v2:
22-32871041-G-A
gnomAD v4:
22-32475054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475054G>A , CM000684.2:g.32475054G>A | GRCh38 |
| NC_000022.10:g.32871041G>A , CM000684.1:g.32871041G>A | GRCh37 |
| NC_000022.9:g.31201041G>A | NCBI36 |
| NG_016001.1:g.5335G>A | |
| NG_016001.2:g.5335G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.52G>A MANE Select | ENSP00000266087.7:p.Glu18Lys | |
| ENST00000266087.11:c.52G>A | ENSP00000266087.7:p.Glu18Lys | |
| ENST00000420700.5:c.52G>A | ENSP00000406155.1:p.Glu18Lys | |
| ENST00000425028.5:c.52G>A | ENSP00000395823.1:p.Glu18Lys | |
| ENST00000492535.1:n.40G>A | ||
| NM_012179.3:c.52G>A | NP_036311.3:p.Glu18Lys | |
| XM_011530106.1:c.-122G>A | XP_011528408.1:n.-122G>A | |
| XM_024452207.1:c.-139G>A | XP_024307975.1:n.-139G>A | |
| NM_012179.4:c.52G>A MANE Select | NP_036311.3:p.Glu18Lys |