Linked Data
ClinVar Variation Id:
2462221
ClinVar RCV Id:
RCV004249805
dbSNP Id:
rs2062245129
gnomAD v4:
20-31820241-C-A
MyVariant Identifiers:
chr20:g.30408044C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820241C>A , CM000682.2:g.31820241C>A | GRCh38 |
| NC_000020.10:g.30408044C>A , CM000682.1:g.30408044C>A | GRCh37 |
| NC_000020.9:g.29871705C>A | NCBI36 |
| NG_012847.1:g.5867C>A , LRG_392:g.5867C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.168C>A MANE Select | ENSP00000365152.4:p.Ala56= | |
| ENST00000375985.4:c.168C>A | ENSP00000365152.4:p.Ala56= | |
| ENST00000375994.6:c.168C>A | ENSP00000365162.2:p.Ala56= | |
| NM_033118.3:c.168C>A , LRG_392t1:c.168C>A | NP_149109.1:p.Ala56= | |
| XR_244155.1:n.333C>A | ||
| NM_033118.4:c.168C>A MANE Select | NP_149109.1:p.Ala56= |