Linked Data
ClinVar Variation Id:
796492
ClinVar RCV Id:
RCV001501053
dbSNP Id:
rs1598823030
gnomAD v4:
18-31541299-A-G
MyVariant Identifiers:
chr18:g.29121262A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541299A>G , CM000680.2:g.31541299A>G | GRCh38 |
| NC_000018.9:g.29121262A>G , CM000680.1:g.29121262A>G | GRCh37 |
| NC_000018.8:g.27375260A>G | NCBI36 |
| NG_007072.3:g.48058A>G , LRG_397:g.48058A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1986A>G MANE Select | ENSP00000261590.8:p.Ala662= | |
| ENST00000261590.12:c.1986A>G | ENSP00000261590.8:p.Ala662= | |
| NM_001943.3:c.1986A>G , LRG_397t1:c.1986A>G | NP_001934.2:p.Ala662= | |
| NM_001943.4:c.1986A>G | NP_001934.2:p.Ala662= | |
| XM_024451095.1:c.1452A>G | XP_024306863.1:p.Ala484= | |
| NM_001943.5:c.1986A>G MANE Select | NP_001934.2:p.Ala662= |