Linked Data
ClinVar Variation Id:
1234080
dbSNP Id:
rs7972
ExAC:
14:77793237 G / A
gnomAD v2:
14-77793237-G-A
gnomAD v3:
14-77326894-G-A
gnomAD v4:
14-77326894-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77326894G>A , CM000676.2:g.77326894G>A | GRCh38 |
| NC_000014.8:g.77793237G>A , CM000676.1:g.77793237G>A | GRCh37 |
| NC_000014.7:g.76862990G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216465.10:c.124G>A MANE Select | ENSP00000216465.5:p.Gly42Arg | |
| ENST00000216465.9:c.124G>A | ENSP00000216465.5:p.Gly42Arg | |
| ENST00000349555.7:c.124G>A | ENSP00000314404.5:p.Gly42Arg | |
| ENST00000361389.8:c.-42G>A | ENSP00000354959.4:n.-42G>A | |
| ENST00000393734.5:c.-42G>A | ENSP00000377335.1:n.-42G>A | |
| ENST00000553268.5:n.199G>A | ||
| ENST00000553431.5:n.255G>A | ||
| ENST00000553586.5:c.127G>A | ENSP00000451976.1:p.Gly43Arg | |
| ENST00000553838.5:n.294G>A | ||
| ENST00000554279.5:c.124G>A | ENSP00000452498.1:p.Gly42Arg | |
| ENST00000554846.5:c.-42G>A | ENSP00000452531.1:n.-42G>A | |
| ENST00000555093.1:n.4173G>A | ||
| ENST00000555583.1:c.-42G>A | ENSP00000452346.1:n.-42G>A | |
| ENST00000556627.5:c.124G>A | ENSP00000450487.1:p.Gly42Arg | |
| ENST00000556914.5:n.204G>A | ||
| ENST00000557053.5:c.-42G>A | ENSP00000451150.1:n.-42G>A | |
| ENST00000557639.5:c.-42G>A | ENSP00000451927.1:n.-42G>A | |
| NM_001312660.1:c.-42G>A | NP_001299589.1:n.-42G>A | |
| NM_001513.3:c.-42G>A | NP_001504.2:n.-42G>A | |
| NM_145870.2:c.124G>A | NP_665877.1:p.Gly42Arg | |
| NM_145871.2:c.124G>A | NP_665878.2:p.Gly42Arg | |
| XM_005267559.2:c.-42G>A | XP_005267616.1:n.-42G>A | |
| XM_011536670.1:c.-353G>A | XP_011534972.1:n.-353G>A | |
| XM_011536671.1:c.127G>A | XP_011534973.1:p.Gly43Arg | |
| NM_001363703.1:c.127G>A | NP_001350632.1:p.Gly43Arg | |
| XM_011536670.2:c.-353G>A | XP_011534972.1:n.-353G>A | |
| XM_011536671.2:c.127G>A | XP_011534973.1:p.Gly43Arg | |
| XM_024449549.1:c.-353G>A | XP_024305317.1:n.-353G>A | |
| XM_024449550.1:c.-42G>A | XP_024305318.1:n.-42G>A | |
| XM_024449551.1:c.-42G>A | XP_024305319.1:n.-42G>A | |
| XM_024449552.1:c.-42G>A | XP_024305320.1:n.-42G>A | |
| NM_145870.3:c.124G>A MANE Select | NP_665877.1:p.Gly42Arg | |
| NM_001312660.2:c.-42G>A | NP_001299589.1:n.-42G>A | |
| NM_001363703.2:c.127G>A | NP_001350632.1:p.Gly43Arg | |
| NM_145871.3:c.124G>A | NP_665878.2:p.Gly42Arg |