Linked Data
ClinVar Variation Id:
1963679
ClinVar RCV Id:
RCV002740113
dbSNP Id:
rs1382352283
gnomAD v2:
11-118963524-A-G
gnomAD v4:
11-119092814-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092814A>G , CM000673.2:g.119092814A>G | GRCh38 |
| NC_000011.9:g.118963524A>G , CM000673.1:g.118963524A>G | GRCh37 |
| NC_000011.8:g.118468734A>G | NCBI36 |
| NG_008093.1:g.12938A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.660+3A>G | ENSP00000509288.1:n.660+3A>G | |
| ENST00000691144.1:n.3040+3A>G | ||
| ENST00000691249.1:n.1649+3A>G | ||
| ENST00000442944.7:c.807+3A>G | ENSP00000392041.3:n.807+3A>G | |
| ENST00000640813.1:c.*62+3A>G | ENSP00000491061.1:n.*62+3A>G | |
| ENST00000648026.1:c.719+3A>G | ENSP00000498044.1:n.719+3A>G | |
| ENST00000648374.1:c.774+3A>G | ENSP00000497255.1:n.774+3A>G | |
| ENST00000649823.1:n.1282+3A>G | ||
| ENST00000650101.1:c.756+3A>G | ENSP00000496970.1:n.756+3A>G | |
| ENST00000650307.1:n.1651+3A>G | ||
| ENST00000652429.1:c.825+3A>G MANE Select | ENSP00000498786.1:n.825+3A>G | |
| ENST00000278715.7:c.825+3A>G | ENSP00000278715.3:n.825+3A>G | |
| ENST00000392841.1:c.774+3A>G | ENSP00000376584.1:n.774+3A>G | |
| ENST00000442944.6:c.774+3A>G | ENSP00000392041.2:n.774+3A>G | |
| ENST00000537841.5:c.774+3A>G | ENSP00000444730.1:n.774+3A>G | |
| ENST00000539045.1:n.204A>G | ||
| ENST00000542044.5:n.1270+3A>G | ||
| ENST00000542729.5:c.654+3A>G | ENSP00000443058.1:n.654+3A>G | |
| ENST00000543090.5:c.732+3A>G | ENSP00000445429.1:n.732+3A>G | |
| ENST00000543543.5:n.1300+3A>G | ||
| ENST00000544182.1:n.1274+3A>G | ||
| ENST00000544387.5:c.705+3A>G | ENSP00000438424.1:n.705+3A>G | |
| ENST00000546226.5:n.1587+3A>G | ||
| NM_000190.3:c.825+3A>G | NP_000181.2:n.825+3A>G | |
| NM_001024382.1:c.774+3A>G | NP_001019553.1:n.774+3A>G | |
| NM_001258208.1:c.705+3A>G | NP_001245137.1:n.705+3A>G | |
| NM_001258209.1:c.654+3A>G | NP_001245138.1:n.654+3A>G | |
| XM_005271531.1:c.774+3A>G | XP_005271588.1:n.774+3A>G | |
| XM_005271532.1:c.774+3A>G | XP_005271589.1:n.774+3A>G | |
| XM_005271533.2:c.771+3A>G | XP_005271590.1:n.771+3A>G | |
| XM_011542796.1:c.660+3A>G | XP_011541098.1:n.660+3A>G | |
| NM_000190.4:c.825+3A>G MANE Select | NP_000181.2:n.825+3A>G | |
| NM_001024382.2:c.774+3A>G | NP_001019553.1:n.774+3A>G | |
| XM_005271533.3:c.771+3A>G | XP_005271590.1:n.771+3A>G | |
| XM_017017629.1:c.774+3A>G | XP_016873118.1:n.774+3A>G | |
| XM_024448460.1:c.651+3A>G | XP_024304228.1:n.651+3A>G | |
| NM_001258208.2:c.705+3A>G | NP_001245137.1:n.705+3A>G | |
| NM_001258209.2:c.654+3A>G | NP_001245138.1:n.654+3A>G |