Linked Data
ClinVar Variation Id:
1453101
ClinVar RCV Id:
RCV002000128
dbSNP Id:
rs2134882159
gnomAD v4:
11-119092812-G-A
COSMIC:
COSM4788917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092812G>A , CM000673.2:g.119092812G>A | GRCh38 |
| NC_000011.9:g.118963522G>A , CM000673.1:g.118963522G>A | GRCh37 |
| NC_000011.8:g.118468732G>A | NCBI36 |
| NG_008093.1:g.12936G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.660+1G>A | ENSP00000509288.1:n.660+1G>A | |
| ENST00000691144.1:n.3040+1G>A | ||
| ENST00000691249.1:n.1649+1G>A | ||
| ENST00000442944.7:c.807+1G>A | ENSP00000392041.3:n.807+1G>A | |
| ENST00000640813.1:c.*62+1G>A | ENSP00000491061.1:n.*62+1G>A | |
| ENST00000648026.1:c.719+1G>A | ENSP00000498044.1:n.719+1G>A | |
| ENST00000648374.1:c.774+1G>A | ENSP00000497255.1:n.774+1G>A | |
| ENST00000649823.1:n.1282+1G>A | ||
| ENST00000650101.1:c.756+1G>A | ENSP00000496970.1:n.756+1G>A | |
| ENST00000650307.1:n.1651+1G>A | ||
| ENST00000652429.1:c.825+1G>A MANE Select | ENSP00000498786.1:n.825+1G>A | |
| ENST00000278715.7:c.825+1G>A | ENSP00000278715.3:n.825+1G>A | |
| ENST00000392841.1:c.774+1G>A | ENSP00000376584.1:n.774+1G>A | |
| ENST00000442944.6:c.774+1G>A | ENSP00000392041.2:n.774+1G>A | |
| ENST00000537841.5:c.774+1G>A | ENSP00000444730.1:n.774+1G>A | |
| ENST00000539045.1:n.202G>A | ||
| ENST00000542044.5:n.1270+1G>A | ||
| ENST00000542729.5:c.654+1G>A | ENSP00000443058.1:n.654+1G>A | |
| ENST00000543090.5:c.732+1G>A | ENSP00000445429.1:n.732+1G>A | |
| ENST00000543543.5:n.1300+1G>A | ||
| ENST00000544182.1:n.1274+1G>A | ||
| ENST00000544387.5:c.705+1G>A | ENSP00000438424.1:n.705+1G>A | |
| ENST00000546226.5:n.1587+1G>A | ||
| NM_000190.3:c.825+1G>A | NP_000181.2:n.825+1G>A | |
| NM_001024382.1:c.774+1G>A | NP_001019553.1:n.774+1G>A | |
| NM_001258208.1:c.705+1G>A | NP_001245137.1:n.705+1G>A | |
| NM_001258209.1:c.654+1G>A | NP_001245138.1:n.654+1G>A | |
| XM_005271531.1:c.774+1G>A | XP_005271588.1:n.774+1G>A | |
| XM_005271532.1:c.774+1G>A | XP_005271589.1:n.774+1G>A | |
| XM_005271533.2:c.771+1G>A | XP_005271590.1:n.771+1G>A | |
| XM_011542796.1:c.660+1G>A | XP_011541098.1:n.660+1G>A | |
| NM_000190.4:c.825+1G>A MANE Select | NP_000181.2:n.825+1G>A | |
| NM_001024382.2:c.774+1G>A | NP_001019553.1:n.774+1G>A | |
| XM_005271533.3:c.771+1G>A | XP_005271590.1:n.771+1G>A | |
| XM_017017629.1:c.774+1G>A | XP_016873118.1:n.774+1G>A | |
| XM_024448460.1:c.651+1G>A | XP_024304228.1:n.651+1G>A | |
| NM_001258208.2:c.705+1G>A | NP_001245137.1:n.705+1G>A | |
| NM_001258209.2:c.654+1G>A | NP_001245138.1:n.654+1G>A |