Linked Data
ClinVar Variation Id:
1626757
ClinVar RCV Id:
RCV002120575
dbSNP Id:
rs2144341754
gnomAD v4:
18-31536332-G-A
MyVariant Identifiers:
chr18:g.29116295G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31536332G>A , CM000680.2:g.31536332G>A | GRCh38 |
| NC_000018.9:g.29116295G>A , CM000680.1:g.29116295G>A | GRCh37 |
| NC_000018.8:g.27370293G>A | NCBI36 |
| NG_007072.3:g.43091G>A , LRG_397:g.43091G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1554G>A MANE Select | ENSP00000261590.8:p.Glu518= | |
| ENST00000261590.12:c.1554G>A | ENSP00000261590.8:p.Glu518= | |
| NM_001943.3:c.1554G>A , LRG_397t1:c.1554G>A | NP_001934.2:p.Glu518= | |
| NM_001943.4:c.1554G>A | NP_001934.2:p.Glu518= | |
| XM_024451095.1:c.1020G>A | XP_024306863.1:p.Glu340= | |
| NM_001943.5:c.1554G>A MANE Select | NP_001934.2:p.Glu518= |