Linked Data
ClinVar Variation Id:
314475
ClinVar RCV Id:
RCV000362777
dbSNP Id:
rs556338868
gnomAD v2:
14-76837761-A-G
gnomAD v3:
14-76371418-A-G
gnomAD v4:
14-76371418-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.76371418A>G , CM000676.2:g.76371418A>G | GRCh38 |
| NC_000014.8:g.76837761A>G , CM000676.1:g.76837761A>G | GRCh37 |
| NC_000014.7:g.75907514A>G | NCBI36 |
| NG_012278.1:g.5072A>G | |
| NG_012278.2:g.5072A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380887.7:c.-300A>G | ENSP00000370270.2:n.-300A>G | |
| ENST00000505752.6:c.-300A>G | ENSP00000423004.1:n.-300A>G | |
| ENST00000512784.6:c.2+60502A>G | ENSP00000424992.2:n.2+60502A>G | |
| ENST00000505752.5:c.-300A>G | ENSP00000423004.1:n.-300A>G | |
| ENST00000512784.5:c.2+60502A>G | ENSP00000424992.1:n.2+60502A>G | |
| NM_004452.3:c.-300A>G | NP_004443.3:n.-300A>G | |
| XM_011536548.1:c.-300A>G | XP_011534850.1:n.-300A>G | |
| NM_004452.4:c.-300A>G | NP_004443.3:n.-300A>G |