Linked Data
ClinVar Variation Id:
448329
ClinVar RCV Id:
RCV000518326
RCV001165737
RCV001167321
RCV000550269
RCV004537862
RCV002329225
RCV001644615
RCV001848902
dbSNP Id:
rs143661911
ExAC:
9:135202552 G / T
gnomAD v2:
9-135202552-G-T
gnomAD v3:
9-132327165-G-T
gnomAD v4:
9-132327165-G-T
PubMed:
PMID:23129421
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132327165G>T , CM000671.2:g.132327165G>T | GRCh38 |
| NC_000009.11:g.135202552G>T , CM000671.1:g.135202552G>T | GRCh37 |
| NC_000009.10:g.134192373G>T | NCBI36 |
| NG_007946.1:g.32821C>A , LRG_268:g.32821C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.4433C>A MANE Select | ENSP00000224140.5:p.Ala1478Glu | |
| ENST00000224140.5:c.4433C>A | ENSP00000224140.5:p.Ala1478Glu | |
| NM_015046.5:c.4433C>A , LRG_268t1:c.4433C>A | NP_055861.3:p.Ala1478Glu | |
| XM_005272171.1:c.4433C>A | XP_005272228.1:p.Ala1478Glu | |
| XM_005272172.1:c.4433C>A | XP_005272229.1:p.Ala1478Glu | |
| XM_005272173.1:c.4433C>A | XP_005272230.1:p.Ala1478Glu | |
| XM_011518404.1:c.4433C>A | XP_011516706.1:p.Ala1478Glu | |
| XM_011518405.1:c.4433C>A | XP_011516707.1:p.Ala1478Glu | |
| XM_011518406.1:c.4433C>A | XP_011516708.1:p.Ala1478Glu | |
| XM_011518407.1:c.4433C>A | XP_011516709.1:p.Ala1478Glu | |
| XM_011518408.1:c.4433C>A | XP_011516710.1:p.Ala1478Glu | |
| XR_929739.1:n.4617C>A | ||
| NM_001351527.1:c.4433C>A | NP_001338456.1:p.Ala1478Glu | |
| NM_001351528.1:c.4433C>A | NP_001338457.1:p.Ala1478Glu | |
| NM_015046.6:c.4433C>A | NP_055861.3:p.Ala1478Glu | |
| XM_005272172.3:c.4433C>A | XP_005272229.1:p.Ala1478Glu | |
| XM_005272173.3:c.4433C>A | XP_005272230.1:p.Ala1478Glu | |
| XM_011518404.3:c.4433C>A | XP_011516706.1:p.Ala1478Glu | |
| XM_011518405.3:c.4433C>A | XP_011516707.1:p.Ala1478Glu | |
| XM_011518406.2:c.4433C>A | XP_011516708.1:p.Ala1478Glu | |
| XM_011518408.3:c.4433C>A | XP_011516710.1:p.Ala1478Glu | |
| XR_001746251.1:n.4617C>A | ||
| XR_929739.2:n.4617C>A | ||
| NM_015046.7:c.4433C>A MANE Select | NP_055861.3:p.Ala1478Glu | |
| NM_001351528.2:c.4433C>A | NP_001338457.1:p.Ala1478Glu | |
| NM_001351527.2:c.4433C>A | NP_001338456.1:p.Ala1478Glu |