Linked Data
ClinVar Variation Id:
2796510
ClinVar RCV Id:
RCV003670642
gnomAD v4:
15-42950324-G-A
MyVariant Identifiers:
chr15:g.43242522G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42950324G>A , CM000677.2:g.42950324G>A | GRCh38 |
| NC_000015.9:g.43242522G>A , CM000677.1:g.43242522G>A | GRCh37 |
| NC_000015.8:g.41029814G>A | NCBI36 |
| NG_012182.1:g.160765C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.5046C>T MANE Select | ENSP00000290650.4:p.Ala1682= | |
| ENST00000290650.8:c.5046C>T | ENSP00000290650.4:p.Ala1682= | |
| ENST00000562173.1:n.251C>T | ||
| NM_174916.2:c.5046C>T | NP_777576.1:p.Ala1682= | |
| NM_174916.3:c.5046C>T MANE Select | NP_777576.1:p.Ala1682= |