Linked Data
dbSNP Id:
rs369867546
ExAC:
10:115804005 G / A
gnomAD v2:
10-115804005-G-A
gnomAD v3:
10-114044246-G-A
gnomAD v4:
10-114044246-G-A
MyVariant Identifiers:
chr10:g.115804005G>A (hg19)
chr10:g.115804005_115804006delinsAC (hg19)
chr10:g.114044246G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044246G>A , CM000672.2:g.114044246G>A | GRCh38 |
| NC_000010.10:g.115804005G>A , CM000672.1:g.115804005G>A | GRCh37 |
| NC_000010.9:g.115793995G>A | NCBI36 |
| NG_012187.1:g.5200G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.114G>A MANE Select | ENSP00000358301.2:p.Pro38= | |
| ENST00000369295.3:c.114G>A | ENSP00000358301.2:p.Pro38= | |
| NM_000684.2:c.114G>A | NP_000675.1:p.Pro38= | |
| NM_000684.3:c.114G>A MANE Select | NP_000675.1:p.Pro38= |