Linked Data
ClinVar Variation Id:
1763224
ClinVar RCV Id:
RCV002434884
dbSNP Id:
rs532898663
ExAC:
16:67974291 C / T
gnomAD v2:
16-67974291-C-T
gnomAD v3:
16-67940388-C-T
gnomAD v4:
16-67940388-C-T
COSMIC:
COSM972631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940388C>T , CM000678.2:g.67940388C>T | GRCh38 |
| NC_000016.9:g.67974291C>T , CM000678.1:g.67974291C>T | GRCh37 |
| NC_000016.8:g.66531792C>T | NCBI36 |
| NG_009778.1:g.8725G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.839G>A MANE Select | ENSP00000264005.5:p.Arg280His | |
| ENST00000264005.9:c.839G>A | ENSP00000264005.5:p.Arg280His | |
| ENST00000570369.5:c.156-314G>A | ||
| ENST00000570980.1:c.623G>A | ENSP00000464651.1:p.Arg208His | |
| ENST00000573538.5:c.577G>A | ENSP00000463220.1:n.577G>A | |
| NM_000229.1:c.839G>A | NP_000220.1:p.Arg280His | |
| NM_000229.2:c.839G>A MANE Select | NP_000220.1:p.Arg280His |