Linked Data
ClinVar Variation Id:
2051801
ClinVar RCV Id:
RCV002927531
dbSNP Id:
rs778138909
ExAC:
11:126141437 C / T
gnomAD v2:
11-126141437-C-T
gnomAD v3:
11-126271542-C-T
gnomAD v4:
11-126271542-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126271542C>T , CM000673.2:g.126271542C>T | GRCh38 |
| NC_000011.9:g.126141437C>T , CM000673.1:g.126141437C>T | GRCh37 |
| NC_000011.8:g.125646647C>T | NCBI36 |
| NG_028029.1:g.7503C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525083.6:n.369C>T | ||
| ENST00000532101.6:n.368C>T | ||
| ENST00000532125.2:c.191C>T | ENSP00000434178.2:p.Ser64Leu | |
| ENST00000533839.6:c.85+2251C>T | ENSP00000509952.1:n.85+2251C>T | |
| ENST00000534011.6:n.467C>T | ||
| ENST00000685484.1:c.191C>T | ENSP00000510622.1:p.Ser64Leu | |
| ENST00000685601.1:c.191C>T | ENSP00000510603.1:p.Ser64Leu | |
| ENST00000685765.1:c.191C>T | ENSP00000509991.1:p.Ser64Leu | |
| ENST00000685844.1:c.86-1427C>T | ENSP00000509820.1:n.86-1427C>T | |
| ENST00000685857.1:n.369C>T | ||
| ENST00000686242.1:c.86-1427C>T | ENSP00000508950.1:n.86-1427C>T | |
| ENST00000686888.1:c.191C>T | ENSP00000509619.1:p.Ser64Leu | |
| ENST00000687699.1:c.315C>T | ENSP00000508878.1:n.315C>T | |
| ENST00000687786.1:n.1524C>T | ||
| ENST00000688588.1:c.191C>T | ENSP00000510802.1:p.Ser64Leu | |
| ENST00000688927.1:n.369C>T | ||
| ENST00000689283.1:c.210-1427C>T | ENSP00000509050.1:n.210-1427C>T | |
| ENST00000689477.1:c.*84C>T | ENSP00000508945.1:n.*84C>T | |
| ENST00000689765.1:c.86-1427C>T | ENSP00000509625.1:n.86-1427C>T | |
| ENST00000690512.1:c.86-936C>T | ENSP00000509793.1:n.86-936C>T | |
| ENST00000692039.1:c.277C>T | ENSP00000508821.1:p.Arg93Trp | |
| ENST00000692336.1:c.191C>T | ENSP00000508540.1:p.Ser64Leu | |
| ENST00000693133.1:n.226-1427C>T | ||
| ENST00000263578.10:c.191C>T MANE Select | ENSP00000263578.5:p.Ser64Leu | |
| ENST00000263578.9:c.191C>T | ENSP00000263578.5:p.Ser64Leu | |
| ENST00000524751.5:n.223-1427C>T | ||
| ENST00000525083.5:n.122-1427C>T | ||
| ENST00000525770.5:c.86-1427C>T | ENSP00000434739.1:n.86-1427C>T | |
| ENST00000526366.5:n.101-177C>T | ||
| ENST00000526525.1:n.246-1427C>T | ||
| ENST00000527004.5:c.191C>T | ENSP00000436374.1:p.Ser64Leu | |
| ENST00000529802.1:n.241C>T | ||
| ENST00000532101.5:n.414C>T | ||
| ENST00000532125.1:c.149C>T | ENSP00000434178.1:p.Ser50Leu | |
| ENST00000533839.5:n.237+2251C>T | ||
| ENST00000534011.5:n.158-936C>T | ||
| ENST00000534315.5:n.598C>T | ||
| NM_017547.3:c.191C>T | NP_060017.1:p.Ser64Leu | |
| NR_037647.1:n.253-1427C>T | ||
| NR_037648.1:n.377C>T | ||
| XM_006718880.2:c.-348C>T | XP_006718943.1:n.-348C>T | |
| XM_006718881.2:c.-232-1427C>T | XP_006718944.1:n.-232-1427C>T | |
| XM_011542895.1:c.-320C>T | XP_011541197.1:n.-320C>T | |
| XM_011542896.1:c.-340C>T | XP_011541198.1:n.-340C>T | |
| XM_006718881.3:c.-232-1427C>T | XP_006718944.1:n.-232-1427C>T | |
| XM_011542895.2:c.-320C>T | XP_011541197.1:n.-320C>T | |
| XM_011542896.2:c.-340C>T | XP_011541198.1:n.-340C>T | |
| XM_017018000.2:c.191C>T | XP_016873489.1:p.Ser64Leu | |
| XM_017018001.1:c.-340C>T | XP_016873490.1:n.-340C>T | |
| XM_017018002.1:c.-224-1427C>T | XP_016873491.1:n.-224-1427C>T | |
| XM_017018003.2:c.-348C>T | XP_016873492.1:n.-348C>T | |
| XM_017018004.1:c.-348C>T | XP_016873493.1:n.-348C>T | |
| XM_017018005.1:c.-546C>T | XP_016873494.1:n.-546C>T | |
| XM_017018006.2:c.-348C>T | XP_016873495.1:n.-348C>T | |
| NM_017547.4:c.191C>T MANE Select | NP_060017.1:p.Ser64Leu | |
| NR_037647.2:n.139-1427C>T | ||
| NR_037648.2:n.368C>T |