Linked Data
ClinVar Variation Id:
2100942
ClinVar RCV Id:
RCV003014653
MyVariant Identifiers:
chr11:g.118963900C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093190C>G , CM000673.2:g.119093190C>G | GRCh38 |
| NC_000011.9:g.118963900C>G , CM000673.1:g.118963900C>G | GRCh37 |
| NC_000011.8:g.118469110C>G | NCBI36 |
| NG_008093.1:g.13314C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.828C>G | ENSP00000509288.1:p.Ala276= | |
| ENST00000691144.1:n.3208C>G | ||
| ENST00000691249.1:n.1817C>G | ||
| ENST00000442944.7:c.975C>G | ENSP00000392041.3:p.Ala325= | |
| ENST00000640813.1:c.*230C>G | ENSP00000491061.1:n.*230C>G | |
| ENST00000648026.1:c.887C>G | ENSP00000498044.1:n.887C>G | |
| ENST00000648374.1:c.942C>G | ENSP00000497255.1:p.Ala314= | |
| ENST00000650101.1:c.924C>G | ENSP00000496970.1:p.Ala308= | |
| ENST00000650307.1:n.1819C>G | ||
| ENST00000652429.1:c.993C>G MANE Select | ENSP00000498786.1:p.Ala331= | |
| ENST00000278715.7:c.993C>G | ENSP00000278715.3:p.Ala331= | |
| ENST00000392841.1:c.942C>G | ENSP00000376584.1:p.Ala314= | |
| ENST00000442944.6:c.942C>G | ENSP00000392041.2:p.Ala314= | |
| ENST00000537841.5:c.942C>G | ENSP00000444730.1:p.Ala314= | |
| ENST00000539045.1:n.492C>G | ||
| ENST00000542044.5:n.1438C>G | ||
| ENST00000542729.5:c.822C>G | ENSP00000443058.1:p.Ala274= | |
| ENST00000543090.5:c.900C>G | ENSP00000445429.1:p.Ala300= | |
| ENST00000543543.5:n.1468C>G | ||
| ENST00000544182.1:n.1442C>G | ||
| ENST00000544387.5:c.873C>G | ENSP00000438424.1:p.Ala291= | |
| ENST00000546226.5:n.1755C>G | ||
| NM_000190.3:c.993C>G | NP_000181.2:p.Ala331= | |
| NM_001024382.1:c.942C>G | NP_001019553.1:p.Ala314= | |
| NM_001258208.1:c.873C>G | NP_001245137.1:p.Ala291= | |
| NM_001258209.1:c.822C>G | NP_001245138.1:p.Ala274= | |
| XM_005271531.1:c.942C>G | XP_005271588.1:p.Ala314= | |
| XM_005271532.1:c.942C>G | XP_005271589.1:p.Ala314= | |
| XM_005271533.2:c.939C>G | XP_005271590.1:p.Ala313= | |
| XM_011542796.1:c.828C>G | XP_011541098.1:p.Ala276= | |
| NM_000190.4:c.993C>G MANE Select | NP_000181.2:p.Ala331= | |
| NM_001024382.2:c.942C>G | NP_001019553.1:p.Ala314= | |
| XM_005271533.3:c.939C>G | XP_005271590.1:p.Ala313= | |
| XM_017017629.1:c.942C>G | XP_016873118.1:p.Ala314= | |
| XM_024448460.1:c.819C>G | XP_024304228.1:p.Ala273= | |
| NM_001258208.2:c.873C>G | NP_001245137.1:p.Ala291= | |
| NM_001258209.2:c.822C>G | NP_001245138.1:p.Ala274= |