Linked Data
ClinVar Variation Id:
454401
dbSNP Id:
rs1190447904
gnomAD v2:
19-55668422-G-A
gnomAD v4:
19-55157054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157054G>A , CM000681.2:g.55157054G>A | GRCh38 |
| NC_000019.9:g.55668422G>A , CM000681.1:g.55668422G>A | GRCh37 |
| NC_000019.8:g.60360234G>A | NCBI36 |
| NG_007866.2:g.5679C>T , LRG_432:g.5679C>T | |
| NG_032759.1:g.14669C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.104C>T MANE Select | ENSP00000341838.5:p.Ala35Val | |
| ENST00000665070.1:c.104C>T | ENSP00000499482.1:p.Ala35Val | |
| ENST00000344887.9:c.104C>T | ENSP00000341838.5:p.Ala35Val | |
| ENST00000586446.1:n.246C>T | ||
| ENST00000586669.5:n.112C>T | ||
| ENST00000587176.5:n.288C>T | ||
| ENST00000587871.1:c.723C>T | ||
| ENST00000590463.1:n.276C>T | ||
| NM_000363.4:c.104C>T , LRG_432t1:c.104C>T | NP_000354.4:p.Ala35Val | |
| NM_000363.5:c.104C>T MANE Select | NP_000354.4:p.Ala35Val |