Linked Data
ClinVar Variation Id:
765902
ClinVar RCV Id:
RCV000944372
dbSNP Id:
rs1596937543
gnomAD v4:
16-56894649-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56894649G>A , CM000678.2:g.56894649G>A | GRCh38 |
| NC_000016.9:g.56928561G>A , CM000678.1:g.56928561G>A | GRCh37 |
| NC_000016.8:g.55486062G>A | NCBI36 |
| NG_009386.1:g.34443G>A | |
| NG_009386.2:g.34443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.2633+7G>A MANE Select | ENSP00000456149.2:n.2633+7G>A | |
| ENST00000262502.5:c.2630+7G>A | ENSP00000262502.5:n.2630+7G>A | |
| ENST00000438926.6:c.2660+7G>A | ENSP00000402152.2:n.2660+7G>A | |
| ENST00000563236.5:c.2633+7G>A | ENSP00000456149.1:n.2633+7G>A | |
| ENST00000566786.5:c.2657+7G>A | ENSP00000457552.1:n.2657+7G>A | |
| NM_000339.2:c.2660+7G>A | NP_000330.2:n.2660+7G>A | |
| NM_001126107.1:c.2657+7G>A | NP_001119579.1:n.2657+7G>A | |
| NM_001126108.1:c.2633+7G>A | NP_001119580.1:n.2633+7G>A | |
| XM_005256119.1:c.2630+7G>A | XP_005256176.1:n.2630+7G>A | |
| XM_005256119.2:c.2630+7G>A | XP_005256176.1:n.2630+7G>A | |
| NM_000339.3:c.2660+7G>A | NP_000330.3:n.2660+7G>A | |
| NM_001126107.2:c.2657+7G>A | NP_001119579.2:n.2657+7G>A | |
| NM_001126108.2:c.2633+7G>A MANE Select | NP_001119580.2:n.2633+7G>A |