Linked Data
ClinVar Variation Id:
381019
ClinVar RCV Id:
RCV000418978
dbSNP Id:
rs896877445
gnomAD v2:
10-88516696-G-A
gnomAD v3:
10-86756939-G-A
gnomAD v4:
10-86756939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86756939G>A , CM000672.2:g.86756939G>A | GRCh38 |
| NC_000010.10:g.88516696G>A , CM000672.1:g.88516696G>A | GRCh37 |
| NC_000010.9:g.88506676G>A | NCBI36 |
| NG_009362.1:g.5301G>A , LRG_298:g.5301G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480152.3:c.-373+20G>A | ENSP00000483569.2:n.-373+20G>A | |
| ENST00000635816.2:c.-268+20G>A | ENSP00000489707.1:n.-268+20G>A | |
| ENST00000636056.2:c.-268+20G>A | ENSP00000490273.1:n.-268+20G>A | |
| ENST00000372037.8:c.-268+20G>A MANE Select | ENSP00000361107.2:n.-268+20G>A | |
| ENST00000638429.1:c.-268+20G>A | ENSP00000492290.1:n.-268+20G>A | |
| ENST00000372037.7:c.-268+20G>A | ENSP00000361107.1:n.-268+20G>A | |
| NM_004329.2:c.-268+20G>A , LRG_298t1:c.-268+20G>A | NP_004320.2:n.-268+20G>A | |
| XM_011540103.1:c.-268+976G>A | XP_011538405.1:n.-268+976G>A | |
| XM_011540104.1:c.-373+20G>A | XP_011538406.1:n.-373+20G>A | |
| XM_011540103.2:c.-268+976G>A | XP_011538405.1:n.-268+976G>A | |
| XM_011540104.2:c.-373+20G>A | XP_011538406.1:n.-373+20G>A | |
| NM_004329.3:c.-268+20G>A MANE Select | NP_004320.2:n.-268+20G>A |