Linked Data
ClinVar Variation Id:
311272
ClinVar RCV Id:
RCV000310417
dbSNP Id:
rs747030511
ExAC:
13:113793762 C / T
gnomAD v2:
13-113793762-C-T
gnomAD v3:
13-113139448-C-T
gnomAD v4:
13-113139448-C-T
COSMIC:
COSM945542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113139448C>T , CM000675.2:g.113139448C>T | GRCh38 |
| NC_000013.10:g.113793762C>T , CM000675.1:g.113793762C>T | GRCh37 |
| NC_000013.9:g.112841763C>T | NCBI36 |
| NG_009258.1:g.21650C>T , LRG_548:g.21650C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375559.8:c.348C>T MANE Select | ENSP00000364709.3:p.Phe116= | |
| ENST00000375551.7:c.348C>T | ENSP00000364701.3:p.Phe116= | |
| ENST00000375559.7:c.348C>T | ENSP00000364709.3:p.Phe116= | |
| ENST00000409306.5:c.348C>T | ENSP00000387092.1:p.Phe116= | |
| ENST00000410083.6:c.348C>T | ENSP00000386320.2:p.Phe116= | |
| ENST00000477269.5:n.385C>T | ||
| NM_000504.3:c.348C>T , LRG_548t1:c.348C>T | NP_000495.1:p.Phe116= | |
| NM_001312674.1:c.348C>T | NP_001299603.1:p.Phe116= | |
| NM_001312675.1:c.348C>T | NP_001299604.1:p.Phe116= | |
| NM_000504.4:c.348C>T MANE Select | NP_000495.1:p.Phe116= | |
| NM_001312674.2:c.348C>T | NP_001299603.1:p.Phe116= | |
| NM_001312675.2:c.348C>T | NP_001299604.1:p.Phe116= |