Linked Data
ClinVar Variation Id:
698913
ClinVar RCV Id:
RCV001400517
dbSNP Id:
rs765528663
ExAC:
12:5154141 G / A
gnomAD v2:
12-5154141-G-A
gnomAD v3:
12-5044975-G-A
gnomAD v4:
12-5044975-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044975G>A , CM000674.2:g.5044975G>A | GRCh38 |
| NC_000012.11:g.5154141G>A , CM000674.1:g.5154141G>A | GRCh37 |
| NC_000012.10:g.5024402G>A | NCBI36 |
| NG_012198.1:g.6057G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.828G>A MANE Select | ENSP00000252321.3:p.Arg276= | |
| ENST00000252321.4:c.828G>A | ENSP00000252321.3:p.Arg276= | |
| NM_002234.3:c.828G>A | NP_002225.2:p.Arg276= | |
| NM_002234.4:c.828G>A MANE Select | NP_002225.2:p.Arg276= |