Linked Data
dbSNP Id:
rs2134876582
gnomAD v4:
11-119092154-T-C
MyVariant Identifiers:
chr11:g.118962864T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092154T>C , CM000673.2:g.119092154T>C | GRCh38 |
| NC_000011.9:g.118962864T>C , CM000673.1:g.118962864T>C | GRCh37 |
| NC_000011.8:g.118468074T>C | NCBI36 |
| NG_008093.1:g.12278T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.477T>C | ENSP00000509288.1:p.Ala159= | |
| ENST00000691144.1:n.2383T>C | ||
| ENST00000691249.1:n.1226T>C | ||
| ENST00000442944.7:c.624T>C | ENSP00000392041.3:p.Ala208= | |
| ENST00000536813.6:c.591T>C | ENSP00000438726.2:p.Ala197= | |
| ENST00000546302.6:c.564T>C | ENSP00000445599.1:p.Ala188= | |
| ENST00000640813.1:c.462-250T>C | ENSP00000491061.1:n.462-250T>C | |
| ENST00000648026.1:c.536T>C | ENSP00000498044.1:p.Leu179Pro | |
| ENST00000648374.1:c.591T>C | ENSP00000497255.1:p.Ala197= | |
| ENST00000648488.1:c.*115T>C | ENSP00000498079.1:n.*115T>C | |
| ENST00000649823.1:n.859T>C | ||
| ENST00000650101.1:c.573T>C | ENSP00000496970.1:p.Ala191= | |
| ENST00000650307.1:n.1468T>C | ||
| ENST00000652429.1:c.642T>C MANE Select | ENSP00000498786.1:p.Ala214= | |
| ENST00000278715.7:c.642T>C | ENSP00000278715.3:p.Ala214= | |
| ENST00000392841.1:c.591T>C | ENSP00000376584.1:p.Ala197= | |
| ENST00000442944.6:c.591T>C | ENSP00000392041.2:p.Ala197= | |
| ENST00000537841.5:c.591T>C | ENSP00000444730.1:p.Ala197= | |
| ENST00000542044.5:n.1087T>C | ||
| ENST00000542345.5:n.780T>C | ||
| ENST00000542729.5:c.591T>C | ENSP00000443058.1:p.Ala197= | |
| ENST00000543090.5:c.559-250T>C | ENSP00000445429.1:n.559-250T>C | |
| ENST00000543543.5:n.877T>C | ||
| ENST00000544182.1:n.617T>C | ||
| ENST00000544387.5:c.642T>C | ENSP00000438424.1:p.Ala214= | |
| ENST00000545621.5:c.*537T>C | ENSP00000444849.1:n.*537T>C | |
| ENST00000546226.5:n.930T>C | ||
| ENST00000546302.5:c.564T>C | ENSP00000445599.1:p.Ala188= | |
| NM_000190.3:c.642T>C | NP_000181.2:p.Ala214= | |
| NM_001024382.1:c.591T>C | NP_001019553.1:p.Ala197= | |
| NM_001258208.1:c.642T>C | NP_001245137.1:p.Ala214= | |
| NM_001258209.1:c.591T>C | NP_001245138.1:p.Ala197= | |
| XM_005271531.1:c.591T>C | XP_005271588.1:p.Ala197= | |
| XM_005271532.1:c.591T>C | XP_005271589.1:p.Ala197= | |
| XM_005271533.2:c.588T>C | XP_005271590.1:p.Ala196= | |
| XM_011542796.1:c.477T>C | XP_011541098.1:p.Ala159= | |
| NM_000190.4:c.642T>C MANE Select | NP_000181.2:p.Ala214= | |
| NM_001024382.2:c.591T>C | NP_001019553.1:p.Ala197= | |
| XM_005271533.3:c.588T>C | XP_005271590.1:p.Ala196= | |
| XM_017017629.1:c.591T>C | XP_016873118.1:p.Ala197= | |
| XM_024448460.1:c.588T>C | XP_024304228.1:p.Ala196= | |
| NM_001258208.2:c.642T>C | NP_001245137.1:p.Ala214= | |
| NM_001258209.2:c.591T>C | NP_001245138.1:p.Ala197= |