Linked Data
ClinVar Variation Id:
239172
dbSNP Id:
rs766238876
ExAC:
14:23858227 C / T
gnomAD v2:
14-23858227-C-T
gnomAD v3:
14-23389018-C-T
gnomAD v4:
14-23389018-C-T
COSMIC:
COSM2031566
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23389018C>T , CM000676.2:g.23389018C>T | GRCh38 |
| NC_000014.8:g.23858227C>T , CM000676.1:g.23858227C>T | GRCh37 |
| NC_000014.7:g.22928067C>T | NCBI36 |
| NG_023444.1:g.24260G>A , LRG_389:g.24260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.4016G>A MANE Select | ENSP00000386041.3:p.Arg1339Gln | |
| ENST00000356287.3:c.4016G>A | ENSP00000348634.3:p.Arg1339Gln | |
| ENST00000405093.7:c.4016G>A | ENSP00000386041.3:p.Arg1339Gln | |
| NM_002471.3:c.4016G>A , LRG_389t1:c.4016G>A | NP_002462.2:p.Arg1339Gln | |
| NM_002471.4:c.4016G>A MANE Select | NP_002462.2:p.Arg1339Gln |