Linked Data
ClinVar Variation Id:
2747079
ClinVar RCV Id:
RCV003501950
dbSNP Id:
rs755288586
ExAC:
20:50401201 G / A
gnomAD v2:
20-50401201-G-A
gnomAD v3:
20-51784662-G-A
gnomAD v4:
20-51784662-G-A
COSMIC:
COSM271696
MyVariant Identifiers:
chr20:g.50401201G>A (hg19)
chr20:g.50401201_50401202delinsAC (hg19)
chr20:g.51784662G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.51784662G>A , CM000682.2:g.51784662G>A | GRCh38 |
| NC_000020.10:g.50401201G>A , CM000682.1:g.50401201G>A | GRCh37 |
| NC_000020.9:g.49834608G>A | NCBI36 |
| NG_008000.1:g.22848C>T , LRG_675:g.22848C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217086.9:c.2765C>T MANE Select | ENSP00000217086.4:p.Ala922Val | |
| ENST00000217086.8:c.2765C>T | ENSP00000217086.4:p.Ala922Val | |
| ENST00000371539.7:c.434C>T | ENSP00000360594.3:p.Ala145Val | |
| ENST00000395997.3:c.1454C>T | ENSP00000379319.3:p.Ala485Val | |
| NM_020436.3:c.2765C>T , LRG_675t1:c.2765C>T | NP_065169.1:p.Ala922Val | |
| XM_005260467.2:c.2459C>T | XP_005260524.1:p.Ala820Val | |
| XM_006723834.2:c.2459C>T | XP_006723897.1:p.Ala820Val | |
| XM_011528919.1:c.2639C>T | XP_011527221.1:p.Ala880Val | |
| XM_011528920.1:c.2459C>T | XP_011527222.1:p.Ala820Val | |
| XM_011528921.1:c.2459C>T | XP_011527223.1:p.Ala820Val | |
| XM_011528922.1:c.2459C>T | XP_011527224.1:p.Ala820Val | |
| XM_011528923.1:c.1454C>T | XP_011527225.1:p.Ala485Val | |
| NM_001318031.1:c.1454C>T | NP_001304960.1:p.Ala485Val | |
| NM_020436.4:c.2765C>T | NP_065169.1:p.Ala922Val | |
| XM_005260467.4:c.2459C>T | XP_005260524.1:p.Ala820Val | |
| XM_011528921.2:c.2459C>T | XP_011527223.1:p.Ala820Val | |
| XM_011528922.2:c.2459C>T | XP_011527224.1:p.Ala820Val | |
| NM_020436.5:c.2765C>T MANE Select | NP_065169.1:p.Ala922Val | |
| NM_001318031.2:c.1454C>T | NP_001304960.1:p.Ala485Val |