Linked Data
ClinVar Variation Id:
1434121
ClinVar RCV Id:
RCV001946253
dbSNP Id:
rs967873180
gnomAD v2:
20-10393240-T-C
gnomAD v3:
20-10412592-T-C
gnomAD v4:
20-10412592-T-C
COSMIC:
COSM4096608
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412592T>C , CM000682.2:g.10412592T>C | GRCh38 |
| NC_000020.10:g.10393240T>C , CM000682.1:g.10393240T>C | GRCh37 |
| NC_000020.9:g.10341240T>C | NCBI36 |
| NG_009109.1:g.26627A>G | |
| NG_009109.2:g.26627A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651692.1:c.923A>G | ENSP00000498849.1:p.His308Arg | |
| ENST00000652676.1:n.567A>G | ||
| ENST00000347364.7:c.923A>G MANE Select | ENSP00000246062.4:p.His308Arg | |
| ENST00000399054.6:c.923A>G | ENSP00000382008.2:p.His308Arg | |
| NM_018848.3:c.923A>G | NP_061336.1:p.His308Arg | |
| NM_170784.2:c.923A>G | NP_740754.1:p.His308Arg | |
| NR_072977.1:n.364-3789A>G | ||
| NR_072977.2:n.347-3789A>G | ||
| NM_170784.3:c.923A>G MANE Select | NP_740754.1:p.His308Arg |