Linked Data
ClinVar Variation Id:
30214
dbSNP Id:
rs387906819
COSMIC:
COSM986960
PubMed:
PMID:22158542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22181517G>A , CM000680.2:g.22181517G>A | GRCh38 |
| NC_000018.9:g.19761478G>A , CM000680.1:g.19761478G>A | GRCh37 |
| NC_000018.8:g.18015476G>A | NCBI36 |
| NG_032677.1:g.17075G>A | |
| NG_032677.2:g.17081G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269216.10:c.1367G>A MANE Select | ENSP00000269216.3:p.Arg456His | |
| ENST00000269216.7:c.1367G>A | ENSP00000269216.3:p.Arg456His | |
| ENST00000581694.1:c.1367G>A | ENSP00000462313.1:p.Arg456His | |
| NM_005257.5:c.1367G>A | NP_005248.2:p.Arg456His | |
| NM_005257.6:c.1367G>A MANE Select | NP_005248.2:p.Arg456His |