Linked Data
ClinVar Variation Id:
288832
dbSNP Id:
rs747719953
ExAC:
11:22283683 C / T
gnomAD v2:
11-22283683-C-T
gnomAD v3:
11-22262137-C-T
gnomAD v4:
11-22262137-C-T
COSMIC:
COSM2112565
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22262137C>T , CM000673.2:g.22262137C>T | GRCh38 |
| NC_000011.9:g.22283683C>T , CM000673.1:g.22283683C>T | GRCh37 |
| NC_000011.8:g.22240259C>T | NCBI36 |
| NG_015844.1:g.73962C>T , LRG_868:g.73962C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.1189C>T | ENSP00000507766.1:p.Arg397Ter | |
| ENST00000682341.1:c.1597C>T | ENSP00000508251.1:p.Arg533Ter | |
| ENST00000683197.1:c.1597C>T | ENSP00000507641.1:p.Arg533Ter | |
| ENST00000683411.1:c.1189C>T | ENSP00000508397.1:p.Arg397Ter | |
| ENST00000683437.1:c.1189C>T | ENSP00000508408.1:p.Arg397Ter | |
| ENST00000683613.1:n.2633C>T | ||
| ENST00000684663.1:c.1594C>T | ENSP00000508009.1:p.Arg532Ter | |
| ENST00000324559.9:c.1639C>T MANE Select | ENSP00000315371.9:p.Arg547Ter | |
| ENST00000648804.1:n.1974C>T | ||
| ENST00000324559.8:c.1639C>T | ENSP00000315371.8:p.Arg547Ter | |
| NM_001142649.1:c.1636C>T | NP_001136121.1:p.Arg546Ter | |
| NM_213599.2:c.1639C>T , LRG_868t1:c.1639C>T | NP_998764.1:p.Arg547Ter | |
| XM_005252820.2:c.1597C>T | XP_005252877.2:p.Arg533Ter | |
| XM_005252821.2:c.1594C>T | XP_005252878.2:p.Arg532Ter | |
| XM_005252822.3:c.1561C>T | XP_005252879.1:p.Arg521Ter | |
| XM_005252823.3:c.1558C>T | XP_005252880.1:p.Arg520Ter | |
| XM_011519949.1:c.1546C>T | XP_011518251.1:p.Arg516Ter | |
| XM_005252820.3:c.1597C>T | XP_005252877.2:p.Arg533Ter | |
| XM_005252821.3:c.1594C>T | XP_005252878.2:p.Arg532Ter | |
| XM_005252822.4:c.1561C>T | XP_005252879.1:p.Arg521Ter | |
| XM_011519949.2:c.1546C>T | XP_011518251.1:p.Arg516Ter | |
| NM_001142649.2:c.1636C>T | NP_001136121.1:p.Arg546Ter | |
| NM_213599.3:c.1639C>T MANE Select | NP_998764.1:p.Arg547Ter |