Linked Data
ClinVar Variation Id:
764417
ClinVar RCV Id:
RCV000942757
dbSNP Id:
rs781234581
ExAC:
15:43242568 G / A
gnomAD v2:
15-43242568-G-A
gnomAD v3:
15-42950370-G-A
gnomAD v4:
15-42950370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42950370G>A , CM000677.2:g.42950370G>A | GRCh38 |
| NC_000015.9:g.43242568G>A , CM000677.1:g.43242568G>A | GRCh37 |
| NC_000015.8:g.41029860G>A | NCBI36 |
| NG_012182.1:g.160719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.5007-7C>T MANE Select | ENSP00000290650.4:n.5007-7C>T | |
| ENST00000290650.8:c.5007-7C>T | ENSP00000290650.4:n.5007-7C>T | |
| ENST00000562173.1:n.205C>T | ||
| NM_174916.2:c.5007-7C>T | NP_777576.1:n.5007-7C>T | |
| NM_174916.3:c.5007-7C>T MANE Select | NP_777576.1:n.5007-7C>T |