Linked Data
dbSNP Id:
rs782474151
ExAC:
11:118955857 G / A
gnomAD v2:
11-118955857-G-A
gnomAD v3:
11-119085147-G-A
gnomAD v4:
11-119085147-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119085147G>A , CM000673.2:g.119085147G>A | GRCh38 |
| NC_000011.9:g.118955857G>A , CM000673.1:g.118955857G>A | GRCh37 |
| NC_000011.8:g.118461067G>A | NCBI36 |
| NG_008093.1:g.5271G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442944.7:c.33+81G>A | ENSP00000392041.3:n.33+81G>A | |
| ENST00000534956.2:n.36+81G>A | ||
| ENST00000536813.6:c.-102+81G>A | ENSP00000438726.2:n.-102+81G>A | |
| ENST00000546302.6:c.33+81G>A | ENSP00000445599.1:n.33+81G>A | |
| ENST00000640813.1:c.-19+81G>A | ENSP00000491061.1:n.-19+81G>A | |
| ENST00000648026.1:c.27+81G>A | ENSP00000498044.1:n.27+81G>A | |
| ENST00000649868.1:c.33+81G>A | ENSP00000497548.1:n.33+81G>A | |
| ENST00000652429.1:c.33+81G>A MANE Select | ENSP00000498786.1:n.33+81G>A | |
| ENST00000278715.7:c.33+81G>A | ENSP00000278715.3:n.33+81G>A | |
| ENST00000442944.6:c.-102+81G>A | ENSP00000392041.2:n.-102+81G>A | |
| ENST00000535793.5:c.33+81G>A | ENSP00000439904.1:n.33+81G>A | |
| ENST00000536185.5:n.201+81G>A | ||
| ENST00000536813.5:c.33+81G>A | ENSP00000438726.1:n.33+81G>A | |
| ENST00000537841.5:c.-29G>A | ENSP00000444730.1:n.-29G>A | |
| ENST00000542044.5:n.158+81G>A | ||
| ENST00000542729.5:c.-29G>A | ENSP00000443058.1:n.-29G>A | |
| ENST00000542822.5:c.114G>A | ENSP00000444817.1:p.Gln38= | |
| ENST00000543090.5:c.33+81G>A | ENSP00000445429.1:n.33+81G>A | |
| ENST00000543821.5:n.179+81G>A | ||
| ENST00000544387.5:c.33+81G>A | ENSP00000438424.1:n.33+81G>A | |
| ENST00000545621.5:c.33+81G>A | ENSP00000444849.1:n.33+81G>A | |
| ENST00000545901.5:n.186+81G>A | ||
| ENST00000546302.5:c.33+81G>A | ENSP00000445599.1:n.33+81G>A | |
| NM_000190.3:c.33+81G>A | NP_000181.2:n.33+81G>A | |
| NM_001258208.1:c.33+81G>A | NP_001245137.1:n.33+81G>A | |
| NM_001258209.1:c.-29G>A | NP_001245138.1:n.-29G>A | |
| XM_005271531.1:c.-29G>A | XP_005271588.1:n.-29G>A | |
| XM_005271532.1:c.-19+14G>A | XP_005271589.1:n.-19+14G>A | |
| XM_005271533.2:c.33+81G>A | XP_005271590.1:n.33+81G>A | |
| NM_000190.4:c.33+81G>A MANE Select | NP_000181.2:n.33+81G>A | |
| XM_005271533.3:c.33+81G>A | XP_005271590.1:n.33+81G>A | |
| XM_024448460.1:c.33+81G>A | XP_024304228.1:n.33+81G>A | |
| NM_001258208.2:c.33+81G>A | NP_001245137.1:n.33+81G>A | |
| NM_001258209.2:c.-29G>A | NP_001245138.1:n.-29G>A |