Linked Data
ClinVar Variation Id:
948433
dbSNP Id:
rs1223069540
gnomAD v2:
X-25031318-C-T
gnomAD v3:
X-25013201-C-T
gnomAD v4:
X-25013201-C-T
COSMIC:
COSM3708571
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013201C>T , CM000685.2:g.25013201C>T | GRCh38 |
| NC_000023.10:g.25031318C>T , CM000685.1:g.25031318C>T | GRCh37 |
| NC_000023.9:g.24941239C>T | NCBI36 |
| NG_008281.1:g.7748G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.794G>A MANE Select | ENSP00000368332.4:p.Arg265His | |
| ENST00000379044.4:c.794G>A | ENSP00000368332.4:p.Arg265His | |
| NM_139058.2:c.794G>A | NP_620689.1:p.Arg265His | |
| NM_139058.3:c.794G>A MANE Select | NP_620689.1:p.Arg265His |