Linked Data
ClinVar Variation Id:
3328
ClinVar RCV Id:
RCV002464057
dbSNP Id:
rs74315428
gnomAD v2:
20-50405429-G-A
gnomAD v4:
20-51788890-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.51788890G>A , CM000682.2:g.51788890G>A | GRCh38 |
| NC_000020.10:g.50405429G>A , CM000682.1:g.50405429G>A | GRCh37 |
| NC_000020.9:g.49838836G>A | NCBI36 |
| NG_008000.1:g.18620C>T , LRG_675:g.18620C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217086.9:c.2713C>T MANE Select | ENSP00000217086.4:p.Arg905Ter | |
| ENST00000217086.8:c.2713C>T | ENSP00000217086.4:p.Arg905Ter | |
| ENST00000371539.7:c.382C>T | ENSP00000360594.3:p.Arg128Ter | |
| ENST00000395997.3:c.1402C>T | ENSP00000379319.3:p.Arg468Ter | |
| NM_020436.3:c.2713C>T , LRG_675t1:c.2713C>T | NP_065169.1:p.Arg905Ter | |
| XM_005260467.2:c.2407C>T | XP_005260524.1:p.Arg803Ter | |
| XM_006723834.2:c.2407C>T | XP_006723897.1:p.Arg803Ter | |
| XM_011528919.1:c.2587C>T | XP_011527221.1:p.Arg863Ter | |
| XM_011528920.1:c.2407C>T | XP_011527222.1:p.Arg803Ter | |
| XM_011528921.1:c.2407C>T | XP_011527223.1:p.Arg803Ter | |
| XM_011528922.1:c.2407C>T | XP_011527224.1:p.Arg803Ter | |
| XM_011528923.1:c.1402C>T | XP_011527225.1:p.Arg468Ter | |
| NM_001318031.1:c.1402C>T | NP_001304960.1:p.Arg468Ter | |
| NM_020436.4:c.2713C>T | NP_065169.1:p.Arg905Ter | |
| XM_005260467.4:c.2407C>T | XP_005260524.1:p.Arg803Ter | |
| XM_011528921.2:c.2407C>T | XP_011527223.1:p.Arg803Ter | |
| XM_011528922.2:c.2407C>T | XP_011527224.1:p.Arg803Ter | |
| NM_020436.5:c.2713C>T MANE Select | NP_065169.1:p.Arg905Ter | |
| NM_001318031.2:c.1402C>T | NP_001304960.1:p.Arg468Ter |