Linked Data
ClinVar Variation Id:
3048
ClinVar RCV Id:
RCV000003189
RCV000122818
RCV000128940
RCV000176968
RCV000224620
RCV001353116
RCV001357240
RCV002225258
RCV002221467
dbSNP Id:
rs1800054
ExAC:
11:108098576 C / G
gnomAD v2:
11-108098576-C-G
gnomAD v3:
11-108227849-C-G
gnomAD v4:
11-108227849-C-G
ERepo:
CA202190/MONDO:0016419/020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108227849C>G , CM000673.2:g.108227849C>G | GRCh38 |
| NC_000011.9:g.108098576C>G , CM000673.1:g.108098576C>G | GRCh37 |
| NC_000011.8:g.107603786C>G | NCBI36 |
| NG_009830.1:g.10018C>G , LRG_135:g.10018C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.146C>G | ENSP00000388058.2:p.Ser49Cys | |
| ENST00000683914.2:c.146C>G | ENSP00000507649.1:p.Ser49Cys | |
| ENST00000713593.1:c.146C>G | ENSP00000518889.1:p.Ser49Cys | |
| ENST00000278616.9:c.146C>G | ENSP00000278616.4:p.Ser49Cys | |
| ENST00000682147.1:n.276C>G | ||
| ENST00000682430.1:n.245C>G | ||
| ENST00000682465.1:c.146C>G | ENSP00000508284.1:p.Ser49Cys | |
| ENST00000682516.1:n.280C>G | ||
| ENST00000682956.1:n.280C>G | ||
| ENST00000683150.1:c.146C>G | ENSP00000507125.1:p.Ser49Cys | |
| ENST00000683174.1:n.296C>G | ||
| ENST00000683468.1:c.146C>G | ENSP00000508178.1:p.Ser49Cys | |
| ENST00000683488.1:n.4806C>G | ||
| ENST00000683914.1:c.146C>G | ENSP00000507649.1:p.Ser49Cys | |
| ENST00000684029.1:c.146C>G | ENSP00000508010.1:p.Ser49Cys | |
| ENST00000684037.1:c.146C>G | ENSP00000508245.1:p.Ser49Cys | |
| ENST00000684061.1:n.280C>G | ||
| ENST00000684179.1:n.280C>G | ||
| ENST00000527805.6:c.146C>G | ENSP00000435747.2:p.Ser49Cys | |
| ENST00000638443.1:c.146C>G | ENSP00000491957.1:p.Ser49Cys | |
| ENST00000639240.1:c.146C>G | ENSP00000491585.1:p.Ser49Cys | |
| ENST00000639953.1:c.146C>G | ENSP00000492487.1:p.Ser49Cys | |
| ENST00000640388.1:c.146C>G | ENSP00000492354.1:p.Ser49Cys | |
| ENST00000675595.1:c.146C>G | ENSP00000502563.1:p.Ser49Cys | |
| ENST00000675843.1:c.146C>G MANE Select | ENSP00000501606.1:p.Ser49Cys | |
| ENST00000278616.8:c.146C>G | ENSP00000278616.4:p.Ser49Cys | |
| ENST00000452508.6:c.146C>G | ENSP00000388058.2:p.Ser49Cys | |
| ENST00000526567.5:c.146C>G | ENSP00000480205.1:p.Ser49Cys | |
| ENST00000527805.5:c.146C>G | ENSP00000435747.1:p.Ser49Cys | |
| ENST00000527891.5:c.146C>G | ENSP00000433955.1:p.Ser49Cys | |
| ENST00000530958.5:c.146C>G | ENSP00000483338.1:p.Ser49Cys | |
| ENST00000532931.5:c.146C>G | ENSP00000432318.1:p.Ser49Cys | |
| ENST00000601453.2:c.146C>G | ENSP00000469471.1:p.Ser49Cys | |
| NM_000051.3:c.146C>G , LRG_135t1:c.146C>G | NP_000042.3:p.Ser49Cys | |
| XM_005271561.3:c.146C>G | XP_005271618.2:p.Ser49Cys | |
| XM_005271562.3:c.146C>G | XP_005271619.2:p.Ser49Cys | |
| XM_006718843.2:c.146C>G | XP_006718906.1:p.Ser49Cys | |
| XM_011542840.1:c.146C>G | XP_011541142.1:p.Ser49Cys | |
| XM_011542841.1:c.146C>G | XP_011541143.1:p.Ser49Cys | |
| XM_011542842.1:c.146C>G | XP_011541144.1:p.Ser49Cys | |
| XM_011542843.1:c.146C>G | XP_011541145.1:p.Ser49Cys | |
| XM_011542846.1:c.146C>G | XP_011541148.1:p.Ser49Cys | |
| NM_001351834.1:c.146C>G | NP_001338763.1:p.Ser49Cys | |
| NM_001351835.1:c.146C>G | NP_001338764.1:p.Ser49Cys | |
| NM_001351836.1:c.146C>G | NP_001338765.1:p.Ser49Cys | |
| XM_005271562.5:c.146C>G | XP_005271619.2:p.Ser49Cys | |
| XM_006718843.4:c.146C>G | XP_006718906.1:p.Ser49Cys | |
| XM_011542840.3:c.146C>G | XP_011541142.1:p.Ser49Cys | |
| XM_011542842.3:c.146C>G | XP_011541144.1:p.Ser49Cys | |
| XM_011542843.2:c.146C>G | XP_011541145.1:p.Ser49Cys | |
| XM_011542844.3:c.-877C>G | XP_011541146.1:n.-877C>G | |
| XM_017017789.2:c.146C>G | XP_016873278.1:p.Ser49Cys | |
| XM_017017790.2:c.146C>G | XP_016873279.1:p.Ser49Cys | |
| XM_017017791.1:c.146C>G | XP_016873280.1:p.Ser49Cys | |
| XM_017017792.2:c.146C>G | XP_016873281.1:p.Ser49Cys | |
| XR_002957150.1:n.879C>G | ||
| NM_001351834.2:c.146C>G | NP_001338763.1:p.Ser49Cys | |
| NM_000051.4:c.146C>G MANE Select | NP_000042.3:p.Ser49Cys | |
| NM_001351835.2:c.146C>G | NP_001338764.1:p.Ser49Cys | |
| NM_001351836.2:c.146C>G | NP_001338765.1:p.Ser49Cys |