Linked Data
dbSNP Id:
rs377382385
ExAC:
11:118962798 G / A
gnomAD v2:
11-118962798-G-A
gnomAD v3:
11-119092088-G-A
gnomAD v4:
11-119092088-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092088G>A , CM000673.2:g.119092088G>A | GRCh38 |
| NC_000011.9:g.118962798G>A , CM000673.1:g.118962798G>A | GRCh37 |
| NC_000011.8:g.118468008G>A | NCBI36 |
| NG_008093.1:g.12212G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.448-37G>A | ENSP00000509288.1:n.448-37G>A | |
| ENST00000691144.1:n.2354-37G>A | ||
| ENST00000691249.1:n.1197-37G>A | ||
| ENST00000442944.7:c.595-37G>A | ENSP00000392041.3:n.595-37G>A | |
| ENST00000536813.6:c.562-37G>A | ENSP00000438726.2:n.562-37G>A | |
| ENST00000546302.6:c.535-37G>A | ENSP00000445599.1:n.535-37G>A | |
| ENST00000640813.1:c.461+214G>A | ENSP00000491061.1:n.461+214G>A | |
| ENST00000648026.1:c.507-37G>A | ENSP00000498044.1:n.507-37G>A | |
| ENST00000648374.1:c.562-37G>A | ENSP00000497255.1:n.562-37G>A | |
| ENST00000648488.1:c.*86-37G>A | ENSP00000498079.1:n.*86-37G>A | |
| ENST00000649823.1:n.830-37G>A | ||
| ENST00000650101.1:c.544-37G>A | ENSP00000496970.1:n.544-37G>A | |
| ENST00000650307.1:n.1439-37G>A | ||
| ENST00000652429.1:c.613-37G>A MANE Select | ENSP00000498786.1:n.613-37G>A | |
| ENST00000278715.7:c.613-37G>A | ENSP00000278715.3:n.613-37G>A | |
| ENST00000392841.1:c.562-37G>A | ENSP00000376584.1:n.562-37G>A | |
| ENST00000442944.6:c.562-37G>A | ENSP00000392041.2:n.562-37G>A | |
| ENST00000537841.5:c.562-37G>A | ENSP00000444730.1:n.562-37G>A | |
| ENST00000542044.5:n.1058-37G>A | ||
| ENST00000542345.5:n.751-37G>A | ||
| ENST00000542729.5:c.562-37G>A | ENSP00000443058.1:n.562-37G>A | |
| ENST00000543090.5:c.559-316G>A | ENSP00000445429.1:n.559-316G>A | |
| ENST00000543543.5:n.848-37G>A | ||
| ENST00000544182.1:n.551G>A | ||
| ENST00000544387.5:c.613-37G>A | ENSP00000438424.1:n.613-37G>A | |
| ENST00000545621.5:c.*508-37G>A | ENSP00000444849.1:n.*508-37G>A | |
| ENST00000546226.5:n.901-37G>A | ||
| ENST00000546302.5:c.535-37G>A | ENSP00000445599.1:n.535-37G>A | |
| NM_000190.3:c.613-37G>A | NP_000181.2:n.613-37G>A | |
| NM_001024382.1:c.562-37G>A | NP_001019553.1:n.562-37G>A | |
| NM_001258208.1:c.613-37G>A | NP_001245137.1:n.613-37G>A | |
| NM_001258209.1:c.562-37G>A | NP_001245138.1:n.562-37G>A | |
| XM_005271531.1:c.562-37G>A | XP_005271588.1:n.562-37G>A | |
| XM_005271532.1:c.562-37G>A | XP_005271589.1:n.562-37G>A | |
| XM_005271533.2:c.559-37G>A | XP_005271590.1:n.559-37G>A | |
| XM_011542796.1:c.448-37G>A | XP_011541098.1:n.448-37G>A | |
| NM_000190.4:c.613-37G>A MANE Select | NP_000181.2:n.613-37G>A | |
| NM_001024382.2:c.562-37G>A | NP_001019553.1:n.562-37G>A | |
| XM_005271533.3:c.559-37G>A | XP_005271590.1:n.559-37G>A | |
| XM_017017629.1:c.562-37G>A | XP_016873118.1:n.562-37G>A | |
| XM_024448460.1:c.559-37G>A | XP_024304228.1:n.559-37G>A | |
| NM_001258208.2:c.613-37G>A | NP_001245137.1:n.613-37G>A | |
| NM_001258209.2:c.562-37G>A | NP_001245138.1:n.562-37G>A |