Linked Data
ClinVar Variation Id:
2295801
ClinVar RCV Id:
RCV004140879
dbSNP Id:
rs151227731
ExAC:
2:97505522 C / A
gnomAD v2:
2-97505522-C-A
gnomAD v3:
2-96839785-C-A
gnomAD v4:
2-96839785-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96839785C>A , CM000664.2:g.96839785C>A | GRCh38 |
| NC_000002.11:g.97505522C>A , CM000664.1:g.97505522C>A | GRCh37 |
| NC_000002.10:g.96869249C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318357.9:c.764G>T (ANKRD23) MANE Select | ENSP00000321679.4:p.Ser255Ile | |
| ENST00000318357.8:c.764G>T (ANKRD23) | ENSP00000321679.4:p.Ser255Ile | |
| ENST00000331001.2:c.638G>T (ANKRD23) | ENSP00000333108.2:p.Ser213Ile | |
| ENST00000418232.5:c.764G>T (ANKRD23) | ENSP00000398987.1:p.Ser255Ile | |
| ENST00000443120.5:c.*1212G>T (ANKRD39) | ENSP00000398321.1:n.*1212G>T | |
| ENST00000476975.5:n.441+212G>T (ANKRD23) | ||
| ENST00000482175.5:n.1069G>T (ANKRD23) | ||
| NM_144994.7:c.764G>T (ANKRD23) | NP_659431.5:p.Ser255Ile | |
| NM_144994.8:c.764G>T (ANKRD23) MANE Select | NP_659431.5:p.Ser255Ile |