Linked Data
ClinVar Variation Id:
314473
ClinVar RCV Id:
RCV000408439
dbSNP Id:
rs111446027
gnomAD v2:
14-76837692-G-A
gnomAD v3:
14-76371349-G-A
gnomAD v4:
14-76371349-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371349G>A , CM000676.2:g.76371349G>A | GRCh38 |
| NC_000014.8:g.76837692G>A , CM000676.1:g.76837692G>A | GRCh37 |
| NC_000014.7:g.75907445G>A | NCBI36 |
| NG_012278.1:g.5003G>A | |
| NG_012278.2:g.5003G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380887.7:c.-369G>A | ENSP00000370270.2:n.-369G>A | |
| ENST00000512784.6:c.2+60433G>A | ENSP00000424992.2:n.2+60433G>A | |
| ENST00000505752.5:c.-369G>A | ENSP00000423004.1:n.-369G>A | |
| ENST00000512784.5:c.2+60433G>A | ENSP00000424992.1:n.2+60433G>A | |
| NM_004452.3:c.-369G>A | NP_004443.3:n.-369G>A | |
| XM_011536548.1:c.-369G>A | XP_011534850.1:n.-369G>A | |
| NM_004452.4:c.-369G>A | NP_004443.3:n.-369G>A |