Linked Data
ClinVar Variation Id:
2059335
ClinVar RCV Id:
RCV002933675
dbSNP Id:
rs371909522
ExAC:
1:115256417 G / A
gnomAD v2:
1-115256417-G-A
gnomAD v4:
1-114713796-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713796G>A , CM000663.2:g.114713796G>A | GRCh38 |
| NC_000001.10:g.115256417G>A , CM000663.1:g.115256417G>A | GRCh37 |
| NC_000001.9:g.115057940G>A | NCBI36 |
| NG_007572.1:g.8099C>T , LRG_92:g.8099C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.290+4C>T MANE Select | ENSP00000358548.4:n.290+4C>T | |
| ENST00000369535.4:c.290+4C>T | ENSP00000358548.4:n.290+4C>T | |
| NM_002524.4:c.290+4C>T | NP_002515.1:n.290+4C>T | |
| NM_002524.5:c.290+4C>T MANE Select | NP_002515.1:n.290+4C>T |