Linked Data
ClinVar Variation Id:
2866861
ClinVar RCV Id:
RCV003700435
gnomAD v4:
14-24255992-A-C
MyVariant Identifiers:
chr14:g.24725198A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24255992A>C , CM000676.2:g.24255992A>C | GRCh38 |
| NC_000014.8:g.24725198A>C , CM000676.1:g.24725198A>C | GRCh37 |
| NC_000014.7:g.23795038A>C | NCBI36 |
| NG_007150.1:g.12175T>G | |
| NG_007150.2:g.12175T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.1488T>G MANE Select | ENSP00000206765.6:p.Ala496= | |
| ENST00000206765.10:c.1488T>G | ENSP00000206765.6:p.Ala496= | |
| ENST00000544573.5:c.162T>G | ENSP00000439446.1:p.Ala54= | |
| ENST00000559136.1:c.561T>G | ENSP00000453337.1:p.Ala187= | |
| NM_000359.2:c.1488T>G | NP_000350.1:p.Ala496= | |
| NM_000359.3:c.1488T>G MANE Select | NP_000350.1:p.Ala496= |