Linked Data
ClinVar Variation Id:
2886423
ClinVar RCV Id:
RCV003628956
dbSNP Id:
rs1891397463
gnomAD v4:
14-23396428-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23396428C>A , CM000676.2:g.23396428C>A | GRCh38 |
| NC_000014.8:g.23865637C>A , CM000676.1:g.23865637C>A | GRCh37 |
| NC_000014.7:g.22935477C>A | NCBI36 |
| NG_023444.1:g.16850G>T , LRG_389:g.16850G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.2293-8G>T MANE Select | ENSP00000386041.3:n.2293-8G>T | |
| ENST00000356287.3:c.2293-8G>T | ENSP00000348634.3:n.2293-8G>T | |
| ENST00000405093.7:c.2293-8G>T | ENSP00000386041.3:n.2293-8G>T | |
| NM_002471.3:c.2293-8G>T , LRG_389t1:c.2293-8G>T | NP_002462.2:n.2293-8G>T | |
| NM_002471.4:c.2293-8G>T MANE Select | NP_002462.2:n.2293-8G>T |