Linked Data
ClinVar Variation Id:
14147
dbSNP Id:
rs267606907
ExAC:
14:23865538 C / T
gnomAD v2:
14-23865538-C-T
gnomAD v4:
14-23396329-C-T
PubMed:
PMID:11815426
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23396329C>T , CM000676.2:g.23396329C>T | GRCh38 |
| NC_000014.8:g.23865538C>T , CM000676.1:g.23865538C>T | GRCh37 |
| NC_000014.7:g.22935378C>T | NCBI36 |
| NG_023444.1:g.16949G>A , LRG_389:g.16949G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405093.9:c.2384G>A MANE Select | ENSP00000386041.3:p.Arg795Gln | |
| ENST00000356287.3:c.2384G>A | ENSP00000348634.3:p.Arg795Gln | |
| ENST00000405093.7:c.2384G>A | ENSP00000386041.3:p.Arg795Gln | |
| NM_002471.3:c.2384G>A , LRG_389t1:c.2384G>A | NP_002462.2:p.Arg795Gln | |
| NM_002471.4:c.2384G>A MANE Select | NP_002462.2:p.Arg795Gln |