Linked Data
ClinVar Variation Id:
1902155
ClinVar RCV Id:
RCV002572721
dbSNP Id:
rs932989436
gnomAD v2:
16-56870493-T-A
gnomAD v3:
16-56836581-T-A
gnomAD v4:
16-56836581-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56836581T>A , CM000678.2:g.56836581T>A | GRCh38 |
| NC_000016.9:g.56870493T>A , CM000678.1:g.56870493T>A | GRCh37 |
| NC_000016.8:g.55427994T>A | NCBI36 |
| NG_052904.1:g.111477T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308159.10:c.1783-20T>A MANE Select | ENSP00000310668.5:n.1783-20T>A | |
| ENST00000308159.9:c.1783-20T>A | ENSP00000310668.5:n.1783-20T>A | |
| ENST00000542526.5:c.1414-20T>A | ENSP00000440235.1:n.1414-20T>A | |
| ENST00000564887.5:c.1414-20T>A | ENSP00000458039.1:n.1414-20T>A | |
| ENST00000569842.5:c.1783-20T>A | ENSP00000458101.1:n.1783-20T>A | |
| NM_001242795.1:c.1414-20T>A | NP_001229724.1:n.1414-20T>A | |
| NM_001242796.1:c.1414-20T>A | NP_001229725.1:n.1414-20T>A | |
| NM_014669.4:c.1783-20T>A | NP_055484.3:n.1783-20T>A | |
| XM_005256263.2:c.1783-20T>A | XP_005256320.1:n.1783-20T>A | |
| NM_001242796.2:c.1414-20T>A | NP_001229725.1:n.1414-20T>A | |
| XM_005256263.3:c.1783-20T>A | XP_005256320.1:n.1783-20T>A | |
| NM_014669.5:c.1783-20T>A MANE Select | NP_055484.3:n.1783-20T>A | |
| NM_001242795.2:c.1414-20T>A | NP_001229724.1:n.1414-20T>A |