Linked Data
ClinVar Variation Id:
2000091
ClinVar RCV Id:
RCV002797300
gnomAD v4:
11-119092442-C-T
MyVariant Identifiers:
chr11:g.118963152C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092442C>T , CM000673.2:g.119092442C>T | GRCh38 |
| NC_000011.9:g.118963152C>T , CM000673.1:g.118963152C>T | GRCh37 |
| NC_000011.8:g.118468362C>T | NCBI36 |
| NG_008093.1:g.12566C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.525C>T | ENSP00000509288.1:p.Asp175= | |
| ENST00000691144.1:n.2671C>T | ||
| ENST00000691249.1:n.1514C>T | ||
| ENST00000442944.7:c.672C>T | ENSP00000392041.3:p.Asp224= | |
| ENST00000536813.6:c.639C>T | ENSP00000438726.2:p.Asp213= | |
| ENST00000640813.1:c.500C>T | ENSP00000491061.1:p.Thr167Ile | |
| ENST00000648026.1:c.584C>T | ENSP00000498044.1:p.Thr195Ile | |
| ENST00000648374.1:c.639C>T | ENSP00000497255.1:p.Asp213= | |
| ENST00000649823.1:n.1147C>T | ||
| ENST00000650101.1:c.621C>T | ENSP00000496970.1:p.Asp207= | |
| ENST00000650307.1:n.1516C>T | ||
| ENST00000652429.1:c.690C>T MANE Select | ENSP00000498786.1:p.Asp230= | |
| ENST00000278715.7:c.690C>T | ENSP00000278715.3:p.Asp230= | |
| ENST00000392841.1:c.639C>T | ENSP00000376584.1:p.Asp213= | |
| ENST00000442944.6:c.639C>T | ENSP00000392041.2:p.Asp213= | |
| ENST00000537841.5:c.639C>T | ENSP00000444730.1:p.Asp213= | |
| ENST00000542044.5:n.1135C>T | ||
| ENST00000542729.5:c.600+279C>T | ENSP00000443058.1:n.600+279C>T | |
| ENST00000543090.5:c.597C>T | ENSP00000445429.1:p.Asp199= | |
| ENST00000543543.5:n.1165C>T | ||
| ENST00000544182.1:n.905C>T | ||
| ENST00000544387.5:c.651+279C>T | ENSP00000438424.1:n.651+279C>T | |
| ENST00000545621.5:c.*825C>T | ENSP00000444849.1:n.*825C>T | |
| ENST00000546226.5:n.1218C>T | ||
| NM_000190.3:c.690C>T | NP_000181.2:p.Asp230= | |
| NM_001024382.1:c.639C>T | NP_001019553.1:p.Asp213= | |
| NM_001258208.1:c.651+279C>T | NP_001245137.1:n.651+279C>T | |
| NM_001258209.1:c.600+279C>T | NP_001245138.1:n.600+279C>T | |
| XM_005271531.1:c.639C>T | XP_005271588.1:p.Asp213= | |
| XM_005271532.1:c.639C>T | XP_005271589.1:p.Asp213= | |
| XM_005271533.2:c.636C>T | XP_005271590.1:p.Asp212= | |
| XM_011542796.1:c.525C>T | XP_011541098.1:p.Asp175= | |
| NM_000190.4:c.690C>T MANE Select | NP_000181.2:p.Asp230= | |
| NM_001024382.2:c.639C>T | NP_001019553.1:p.Asp213= | |
| XM_005271533.3:c.636C>T | XP_005271590.1:p.Asp212= | |
| XM_017017629.1:c.639C>T | XP_016873118.1:p.Asp213= | |
| XM_024448460.1:c.597+279C>T | XP_024304228.1:n.597+279C>T | |
| NM_001258208.2:c.651+279C>T | NP_001245137.1:n.651+279C>T | |
| NM_001258209.2:c.600+279C>T | NP_001245138.1:n.600+279C>T |