Linked Data
ClinVar Variation Id:
1044644
dbSNP Id:
rs982668501
gnomAD v3:
9-128946126-G-A
gnomAD v4:
9-128946126-G-A
COSMIC:
COSM3904619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128946126G>A , CM000671.2:g.128946126G>A | GRCh38 |
| NC_000009.11:g.131708405G>A , CM000671.1:g.131708405G>A | GRCh37 |
| NC_000009.10:g.130748226G>A | NCBI36 |
| NG_017009.1:g.6608C>T , LRG_744:g.6608C>T | |
| NG_033111.1:g.3434G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1178C>T MANE Select | ENSP00000361667.3:p.Ser393Phe | |
| ENST00000372586.3:c.1178C>T | ENSP00000361667.3:p.Ser393Phe | |
| ENST00000482796.1:c.39-3063G>A | ENSP00000417556.2:n.39-3063G>A | |
| NM_014908.3:c.1178C>T , LRG_744t1:c.1178C>T | NP_055723.1:p.Ser393Phe | |
| NM_014908.4:c.1178C>T MANE Select | NP_055723.1:p.Ser393Phe |