Linked Data
dbSNP Id:
rs4732682
gnomAD v2:
8-26720893-C-T
gnomAD v3:
8-26863376-C-T
gnomAD v4:
8-26863376-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.26863376C>T , CM000670.2:g.26863376C>T | GRCh38 |
| NC_000008.10:g.26720893C>T , CM000670.1:g.26720893C>T | GRCh37 |
| NC_000008.9:g.26776810C>T | NCBI36 |
| NG_029395.1:g.7030G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380573.4:c.883+711G>A MANE Select | ENSP00000369947.3:n.883+711G>A | |
| ENST00000276393.8:c.883+711G>A | ENSP00000276393.4:n.883+711G>A | |
| ENST00000354550.4:c.883+711G>A | ENSP00000346557.4:n.883+711G>A | |
| ENST00000380572.3:c.883+711G>A | ENSP00000369946.3:n.883+711G>A | |
| ENST00000380573.3:c.883+711G>A | ENSP00000369947.3:n.883+711G>A | |
| ENST00000380582.7:c.883+711G>A | ENSP00000369956.3:n.883+711G>A | |
| ENST00000380586.5:c.883+711G>A | ENSP00000369960.1:n.883+711G>A | |
| ENST00000519096.5:c.883+711G>A | ENSP00000431073.1:n.883+711G>A | |
| ENST00000519229.5:c.883+711G>A | ENSP00000430793.1:n.883+711G>A | |
| ENST00000521711.5:c.883+711G>A | ENSP00000430414.1:n.883+711G>A | |
| NM_000680.2:c.883+711G>A | NP_000671.2:n.883+711G>A | |
| NM_033302.2:c.883+711G>A | NP_150645.2:n.883+711G>A | |
| NM_033303.3:c.883+711G>A | NP_150646.3:n.883+711G>A | |
| NM_033304.2:c.883+711G>A | NP_150647.2:n.883+711G>A | |
| XM_005273414.3:c.883+711G>A | XP_005273471.1:n.883+711G>A | |
| XM_006716292.2:c.883+711G>A | XP_006716355.1:n.883+711G>A | |
| XM_006716293.2:c.883+711G>A | XP_006716356.1:n.883+711G>A | |
| XM_011544411.1:c.883+711G>A | XP_011542713.1:n.883+711G>A | |
| XM_011544412.1:c.883+711G>A | XP_011542714.1:n.883+711G>A | |
| NM_000680.3:c.883+711G>A | NP_000671.2:n.883+711G>A | |
| NM_001322502.1:c.883+711G>A | NP_001309431.1:n.883+711G>A | |
| NM_001322503.1:c.883+711G>A | NP_001309432.1:n.883+711G>A | |
| NM_001322504.1:c.883+711G>A | NP_001309433.1:n.883+711G>A | |
| NM_033302.3:c.883+711G>A | NP_150645.2:n.883+711G>A | |
| NM_033303.4:c.883+711G>A | NP_150646.3:n.883+711G>A | |
| NM_033304.3:c.883+711G>A | NP_150647.2:n.883+711G>A | |
| NR_136343.1:n.1569+711G>A | ||
| XM_006716292.3:c.883+711G>A | XP_006716355.1:n.883+711G>A | |
| XM_006716293.4:c.883+711G>A | XP_006716356.1:n.883+711G>A | |
| XM_011544411.2:c.883+711G>A | XP_011542713.1:n.883+711G>A | |
| XM_011544412.3:c.883+711G>A | XP_011542714.1:n.883+711G>A | |
| XM_017013094.1:c.883+711G>A | XP_016868583.1:n.883+711G>A | |
| XM_017013095.1:c.883+711G>A | XP_016868584.1:n.883+711G>A | |
| XM_017013096.1:c.883+711G>A | XP_016868585.1:n.883+711G>A | |
| XR_001745476.1:n.1904+711G>A | ||
| XR_001745477.1:n.1904+711G>A | ||
| NM_000680.4:c.883+711G>A MANE Select | NP_000671.2:n.883+711G>A |