Linked Data
ClinVar Variation Id:
309340
ClinVar RCV Id:
RCV000303534
dbSNP Id:
rs368484048
ExAC:
12:5155205 G / A
gnomAD v2:
12-5155205-G-A
gnomAD v3:
12-5046039-G-A
gnomAD v4:
12-5046039-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5046039G>A , CM000674.2:g.5046039G>A | GRCh38 |
| NC_000012.11:g.5155205G>A , CM000674.1:g.5155205G>A | GRCh37 |
| NC_000012.10:g.5025466G>A | NCBI36 |
| NG_012198.1:g.7121G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252321.5:c.*50G>A MANE Select | ENSP00000252321.3:n.*50G>A | |
| ENST00000252321.4:c.*50G>A | ENSP00000252321.3:n.*50G>A | |
| NM_002234.3:c.*50G>A | NP_002225.2:n.*50G>A | |
| NM_002234.4:c.*50G>A MANE Select | NP_002225.2:n.*50G>A |