Linked Data
ClinVar Variation Id:
3124046
ClinVar RCV Id:
RCV004416852
dbSNP Id:
rs762392951
gnomAD v2:
2-97505332-C-G
gnomAD v3:
2-96839595-C-G
gnomAD v4:
2-96839595-C-G
COSMIC:
COSM4985666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96839595C>G , CM000664.2:g.96839595C>G | GRCh38 |
| NC_000002.11:g.97505332C>G , CM000664.1:g.97505332C>G | GRCh37 |
| NC_000002.10:g.96869059C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318357.9:c.872G>C (ANKRD23) MANE Select | ENSP00000321679.4:p.Arg291Pro | |
| ENST00000318357.8:c.872G>C (ANKRD23) | ENSP00000321679.4:p.Arg291Pro | |
| ENST00000331001.2:c.746G>C (ANKRD23) | ENSP00000333108.2:p.Arg249Pro | |
| ENST00000418232.5:c.872G>C (ANKRD23) | ENSP00000398987.1:p.Arg291Pro | |
| ENST00000443120.5:c.*1402G>C (ANKRD39) | ENSP00000398321.1:n.*1402G>C | |
| ENST00000476975.5:n.441+402G>C (ANKRD23) | ||
| ENST00000482175.5:n.1177G>C (ANKRD23) | ||
| NM_144994.7:c.872G>C (ANKRD23) | NP_659431.5:p.Arg291Pro | |
| NM_144994.8:c.872G>C (ANKRD23) MANE Select | NP_659431.5:p.Arg291Pro |