Linked Data
ClinVar Variation Id:
708075
ClinVar RCV Id:
RCV002065459
dbSNP Id:
rs772013831
ExAC:
9:131708212 G / A
gnomAD v2:
9-131708212-G-A
gnomAD v3:
9-128945933-G-A
gnomAD v4:
9-128945933-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945933G>A , CM000671.2:g.128945933G>A | GRCh38 |
| NC_000009.11:g.131708212G>A , CM000671.1:g.131708212G>A | GRCh37 |
| NC_000009.10:g.130748033G>A | NCBI36 |
| NG_017009.1:g.6801C>T , LRG_744:g.6801C>T | |
| NG_033111.1:g.3241G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1371C>T MANE Select | ENSP00000361667.3:p.Phe457= | |
| ENST00000372586.3:c.1371C>T | ENSP00000361667.3:p.Phe457= | |
| ENST00000482796.1:c.39-3256G>A | ENSP00000417556.2:n.39-3256G>A | |
| NM_014908.3:c.1371C>T , LRG_744t1:c.1371C>T | NP_055723.1:p.Phe457= | |
| NM_014908.4:c.1371C>T MANE Select | NP_055723.1:p.Phe457= |