Linked Data
ClinVar Variation Id:
447767
dbSNP Id:
rs373273269
ExAC:
15:23060817 G / A
gnomAD v2:
15-23060817-G-A
gnomAD v3:
15-22812251-C-T
gnomAD v4:
15-22812251-C-T
PubMed:
PMID:18191948
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22812251C>T , CM000677.2:g.22812251C>T | GRCh38 |
| NC_000015.9:g.23060817G>A , CM000677.1:g.23060817G>A | GRCh37 |
| NC_000015.8:g.20612258G>A | NCBI36 |
| NG_009056.1:g.31027C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337435.9:c.315C>T MANE Select | ENSP00000337452.4:p.Phe105= | |
| ENST00000337435.8:c.315C>T | ENSP00000337452.4:p.Phe105= | |
| ENST00000437912.6:c.90C>T | ENSP00000393962.2:p.Phe30= | |
| ENST00000557930.1:c.159C>T | ENSP00000453797.1:p.Phe53= | |
| ENST00000559448.5:c.205C>T | ||
| ENST00000560069.5:n.168C>T | ||
| ENST00000561183.5:c.90C>T | ENSP00000453722.1:p.Phe30= | |
| NM_001142275.1:c.90C>T | NP_001135747.1:p.Phe30= | |
| NM_144599.4:c.315C>T | NP_653200.2:p.Phe105= | |
| NM_144599.5:c.315C>T MANE Select | NP_653200.2:p.Phe105= |