Linked Data
ClinVar Variation Id:
242680
dbSNP Id:
rs281864919
ExAC:
5:151202325 C / T
gnomAD v2:
5-151202325-C-T
gnomAD v4:
5-151822764-C-T
COSMIC:
COSM1064655
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151822764C>T , CM000667.2:g.151822764C>T | GRCh38 |
| NC_000005.9:g.151202325C>T , CM000667.1:g.151202325C>T | GRCh37 |
| NC_000005.8:g.151182518C>T | NCBI36 |
| NG_011764.1:g.107073G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274576.9:c.1259G>A MANE Select | ENSP00000274576.5:p.Arg420His | |
| ENST00000274576.8:c.1259G>A | ENSP00000274576.4:p.Arg420His | |
| ENST00000455880.2:c.1283G>A | ENSP00000411593.2:p.Arg428His | |
| ENST00000462581.6:c.*1017G>A | ENSP00000430595.1:n.*1017G>A | |
| NM_000171.3:c.1259G>A | NP_000162.2:p.Arg420His | |
| NM_001146040.1:c.1283G>A | NP_001139512.1:p.Arg428His | |
| NM_001292000.1:c.1010G>A | NP_001278929.1:p.Arg337His | |
| NM_000171.4:c.1259G>A MANE Select | NP_000162.2:p.Arg420His | |
| NM_001146040.2:c.1283G>A | NP_001139512.1:p.Arg428His | |
| NM_001292000.2:c.1010G>A | NP_001278929.1:p.Arg337His |