Linked Data
ClinVar Variation Id:
229794
dbSNP Id:
rs747727055
ExAC:
11:108115727 C / T
gnomAD v2:
11-108115727-C-T
gnomAD v3:
11-108245000-C-T
gnomAD v4:
11-108245000-C-T
PubMed:
PMID:9463314
PMID:10873394
PMID:12552559
PMID:18634022
PMID:19431188
PMID:22529920
PMID:23264026
PMID:25040471
ERepo:
CA6264689/MONDO:0016419/020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108245000C>T , CM000673.2:g.108245000C>T | GRCh38 |
| NC_000011.9:g.108115727C>T , CM000673.1:g.108115727C>T | GRCh37 |
| NC_000011.8:g.107620937C>T | NCBI36 |
| NG_009830.1:g.27169C>T , LRG_135:g.27169C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.875C>T | ENSP00000388058.2:p.Pro292Leu | |
| ENST00000713593.1:c.*346C>T | ENSP00000518889.1:n.*346C>T | |
| ENST00000278616.9:c.875C>T | ENSP00000278616.4:p.Pro292Leu | |
| ENST00000682430.1:n.974C>T | ||
| ENST00000682516.1:n.1009C>T | ||
| ENST00000682956.1:n.1009C>T | ||
| ENST00000683100.1:n.3222C>T | ||
| ENST00000683174.1:n.1025C>T | ||
| ENST00000683605.1:n.370C>T | ||
| ENST00000684037.1:c.875C>T | ENSP00000508245.1:p.Pro292Leu | |
| ENST00000684061.1:n.1009C>T | ||
| ENST00000684179.1:n.844C>T | ||
| ENST00000527805.6:c.875C>T | ENSP00000435747.2:p.Pro292Leu | |
| ENST00000675595.1:c.710C>T | ENSP00000502563.1:p.Pro237Leu | |
| ENST00000675843.1:c.875C>T MANE Select | ENSP00000501606.1:p.Pro292Leu | |
| ENST00000278616.8:c.875C>T | ENSP00000278616.4:p.Pro292Leu | |
| ENST00000452508.6:c.875C>T | ENSP00000388058.2:p.Pro292Leu | |
| ENST00000527805.5:c.875C>T | ENSP00000435747.1:p.Pro292Leu | |
| NM_000051.3:c.875C>T , LRG_135t1:c.875C>T | NP_000042.3:p.Pro292Leu | |
| XM_005271561.3:c.875C>T | XP_005271618.2:p.Pro292Leu | |
| XM_005271562.3:c.875C>T | XP_005271619.2:p.Pro292Leu | |
| XM_006718843.2:c.875C>T | XP_006718906.1:p.Pro292Leu | |
| XM_011542840.1:c.875C>T | XP_011541142.1:p.Pro292Leu | |
| XM_011542841.1:c.875C>T | XP_011541143.1:p.Pro292Leu | |
| XM_011542842.1:c.710C>T | XP_011541144.1:p.Pro237Leu | |
| XM_011542843.1:c.875C>T | XP_011541145.1:p.Pro292Leu | |
| XM_011542844.1:c.-170C>T | XP_011541146.1:n.-170C>T | |
| XM_011542846.1:c.875C>T | XP_011541148.1:p.Pro292Leu | |
| NM_001351834.1:c.875C>T | NP_001338763.1:p.Pro292Leu | |
| XM_005271562.5:c.875C>T | XP_005271619.2:p.Pro292Leu | |
| XM_006718843.4:c.875C>T | XP_006718906.1:p.Pro292Leu | |
| XM_011542840.3:c.875C>T | XP_011541142.1:p.Pro292Leu | |
| XM_011542842.3:c.710C>T | XP_011541144.1:p.Pro237Leu | |
| XM_011542843.2:c.875C>T | XP_011541145.1:p.Pro292Leu | |
| XM_011542844.3:c.-170C>T | XP_011541146.1:n.-170C>T | |
| XM_017017789.2:c.875C>T | XP_016873278.1:p.Pro292Leu | |
| XM_017017790.2:c.875C>T | XP_016873279.1:p.Pro292Leu | |
| XM_017017791.1:c.875C>T | XP_016873280.1:p.Pro292Leu | |
| XM_017017792.2:c.875C>T | XP_016873281.1:p.Pro292Leu | |
| XR_002957150.1:n.1608C>T | ||
| NM_001351834.2:c.875C>T | NP_001338763.1:p.Pro292Leu | |
| NM_000051.4:c.875C>T MANE Select | NP_000042.3:p.Pro292Leu |