Linked Data
ClinVar Variation Id:
2915642
ClinVar RCV Id:
RCV003740075
dbSNP Id:
rs754114926
ExAC:
20:23618332 G / A
gnomAD v2:
20-23618332-G-A
gnomAD v4:
20-23637695-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23637695G>A , CM000682.2:g.23637695G>A | GRCh38 |
| NC_000020.10:g.23618332G>A , CM000682.1:g.23618332G>A | GRCh37 |
| NC_000020.9:g.23566332G>A | NCBI36 |
| NG_012887.2:g.5243C>T | |
| NG_012887.3:g.5243C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376925.8:c.168C>T MANE Select | ENSP00000366124.3:p.Ala56= | |
| ENST00000376925.7:c.168C>T | ENSP00000366124.3:p.Ala56= | |
| ENST00000398409.1:c.168C>T | ENSP00000381446.1:p.Ala56= | |
| ENST00000398411.5:c.168C>T | ENSP00000381448.1:p.Ala56= | |
| NM_000099.3:c.168C>T | NP_000090.1:p.Ala56= | |
| NM_001288614.1:c.168C>T | NP_001275543.1:p.Ala56= | |
| NM_000099.4:c.168C>T MANE Select | NP_000090.1:p.Ala56= | |
| NM_001288614.2:c.168C>T | NP_001275543.1:p.Ala56= |