Linked Data
ClinVar Variation Id:
1407081
ClinVar RCV Id:
RCV001918255
dbSNP Id:
rs1164055763
gnomAD v2:
13-28498765-G-A
gnomAD v3:
13-27924628-G-A
gnomAD v4:
13-27924628-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924628G>A , CM000675.2:g.27924628G>A | GRCh38 |
| NC_000013.10:g.28498765G>A , CM000675.1:g.28498765G>A | GRCh37 |
| NC_000013.9:g.27396765G>A | NCBI36 |
| NG_008183.1:g.9598G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.779G>A MANE Select | ENSP00000370421.4:p.Arg260His | |
| ENST00000381033.4:c.779G>A | ENSP00000370421.4:p.Arg260His | |
| NM_000209.3:c.779G>A | NP_000200.1:p.Arg260His | |
| NM_000209.4:c.779G>A MANE Select | NP_000200.1:p.Arg260His |