Linked Data
ClinVar Variation Id:
300069
dbSNP Id:
rs114490473
ExAC:
10:50684306 G / A
gnomAD v2:
10-50684306-G-A
gnomAD v3:
10-49476260-G-A
gnomAD v4:
10-49476260-G-A
COSMIC:
COSM3978581
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49476260G>A , CM000672.2:g.49476260G>A | GRCh38 |
| NC_000010.10:g.50684306G>A , CM000672.1:g.50684306G>A | GRCh37 |
| NC_000010.9:g.50354312G>A | NCBI36 |
| NG_009442.1:g.67842C>T , LRG_465:g.67842C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.2337C>T MANE Select | ENSP00000348089.5:p.Phe779= | |
| ENST00000681632.1:n.2415C>T | ||
| ENST00000681659.1:c.2178C>T | ENSP00000505631.1:p.Phe726= | |
| ENST00000355832.9:c.2337C>T | ENSP00000348089.5:p.Phe779= | |
| ENST00000623073.3:c.*679-2018C>T | ENSP00000485650.1:n.*679-2018C>T | |
| ENST00000623115.3:c.447C>T | ENSP00000485321.1:p.Phe149= | |
| NM_000124.3:c.2337C>T | NP_000115.1:p.Phe779= | |
| NM_001346440.1:c.2337C>T | NP_001333369.1:p.Phe779= | |
| NM_000124.4:c.2337C>T MANE Select | NP_000115.1:p.Phe779= | |
| NM_001346440.2:c.2337C>T | NP_001333369.1:p.Phe779= |