Linked Data
ClinVar Variation Id:
309343
ClinVar RCV Id:
RCV000300020
dbSNP Id:
rs66942317
gnomAD v2:
12-5155891-A-T
gnomAD v3:
12-5046725-A-T
gnomAD v4:
12-5046725-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5046725A>T , CM000674.2:g.5046725A>T | GRCh38 |
| NC_000012.11:g.5155891A>T , CM000674.1:g.5155891A>T | GRCh37 |
| NC_000012.10:g.5026152A>T | NCBI36 |
| NG_012198.1:g.7807A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252321.5:c.*736A>T MANE Select | ENSP00000252321.3:n.*736A>T | |
| ENST00000252321.4:c.*736A>T | ENSP00000252321.3:n.*736A>T | |
| NM_002234.3:c.*736A>T | NP_002225.2:n.*736A>T | |
| NM_002234.4:c.*736A>T MANE Select | NP_002225.2:n.*736A>T |