Linked Data
ClinVar Variation Id:
2696936
ClinVar RCV Id:
RCV003517882
dbSNP Id:
rs776269081
ExAC:
18:29111187 G / A
gnomAD v2:
18-29111187-G-A
gnomAD v4:
18-31531224-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31531224G>A , CM000680.2:g.31531224G>A | GRCh38 |
| NC_000018.9:g.29111187G>A , CM000680.1:g.29111187G>A | GRCh37 |
| NC_000018.8:g.27365185G>A | NCBI36 |
| NG_007072.3:g.37983G>A , LRG_397:g.37983G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683614.2:n.1083G>A | ||
| ENST00000683614.1:c.1083G>A | ||
| ENST00000261590.13:c.1252G>A MANE Select | ENSP00000261590.8:p.Glu418Lys | |
| ENST00000261590.12:c.1252G>A | ENSP00000261590.8:p.Glu418Lys | |
| NM_001943.3:c.1252G>A , LRG_397t1:c.1252G>A | NP_001934.2:p.Glu418Lys | |
| NM_001943.4:c.1252G>A | NP_001934.2:p.Glu418Lys | |
| XM_024451095.1:c.718G>A | XP_024306863.1:p.Glu240Lys | |
| NM_001943.5:c.1252G>A MANE Select | NP_001934.2:p.Glu418Lys |