Linked Data
ClinVar Variation Id:
133610
ClinVar RCV Id:
RCV000120126
RCV000128879
RCV000204457
RCV000224090
RCV001354699
RCV002221489
RCV002225358
RCV002498555
RCV003149820
dbSNP Id:
rs3218673
ExAC:
11:108138045 C / T
gnomAD v2:
11-108138045-C-T
gnomAD v3:
11-108267318-C-T
gnomAD v4:
11-108267318-C-T
ERepo:
CA157083/MONDO:0016419/020
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108267318C>T , CM000673.2:g.108267318C>T | GRCh38 |
| NC_000011.9:g.108138045C>T , CM000673.1:g.108138045C>T | GRCh37 |
| NC_000011.8:g.107643255C>T | NCBI36 |
| NG_009830.1:g.49487C>T , LRG_135:g.49487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.2614C>T | ENSP00000388058.2:p.Pro872Ser | |
| ENST00000713593.1:c.*2085C>T | ENSP00000518889.1:n.*2085C>T | |
| ENST00000278616.9:c.2614C>T | ENSP00000278616.4:p.Pro872Ser | |
| ENST00000682516.1:n.2748C>T | ||
| ENST00000683174.1:n.2764C>T | ||
| ENST00000683605.1:n.2109C>T | ||
| ENST00000684037.1:c.*1549C>T | ENSP00000508245.1:n.*1549C>T | |
| ENST00000527805.6:c.2614C>T | ENSP00000435747.2:p.Pro872Ser | |
| ENST00000675595.1:c.2449C>T | ENSP00000502563.1:p.Pro817Ser | |
| ENST00000675843.1:c.2614C>T MANE Select | ENSP00000501606.1:p.Pro872Ser | |
| ENST00000278616.8:c.2614C>T | ENSP00000278616.4:p.Pro872Ser | |
| ENST00000452508.6:c.2614C>T | ENSP00000388058.2:p.Pro872Ser | |
| ENST00000527805.5:c.2614C>T | ENSP00000435747.1:p.Pro872Ser | |
| NM_000051.3:c.2614C>T , LRG_135t1:c.2614C>T | NP_000042.3:p.Pro872Ser | |
| XM_005271561.3:c.2614C>T | XP_005271618.2:p.Pro872Ser | |
| XM_005271562.3:c.2614C>T | XP_005271619.2:p.Pro872Ser | |
| XM_006718843.2:c.2614C>T | XP_006718906.1:p.Pro872Ser | |
| XM_011542840.1:c.2614C>T | XP_011541142.1:p.Pro872Ser | |
| XM_011542841.1:c.2614C>T | XP_011541143.1:p.Pro872Ser | |
| XM_011542842.1:c.2449C>T | XP_011541144.1:p.Pro817Ser | |
| XM_011542843.1:c.2614C>T | XP_011541145.1:p.Pro872Ser | |
| XM_011542844.1:c.1570C>T | XP_011541146.1:p.Pro524Ser | |
| XM_011542845.1:c.1306C>T | XP_011541147.1:p.Pro436Ser | |
| XM_011542846.1:c.2614C>T | XP_011541148.1:p.Pro872Ser | |
| NM_001351834.1:c.2614C>T | NP_001338763.1:p.Pro872Ser | |
| XM_005271562.5:c.2614C>T | XP_005271619.2:p.Pro872Ser | |
| XM_006718843.4:c.2614C>T | XP_006718906.1:p.Pro872Ser | |
| XM_011542840.3:c.2614C>T | XP_011541142.1:p.Pro872Ser | |
| XM_011542842.3:c.2449C>T | XP_011541144.1:p.Pro817Ser | |
| XM_011542843.2:c.2614C>T | XP_011541145.1:p.Pro872Ser | |
| XM_011542844.3:c.1570C>T | XP_011541146.1:p.Pro524Ser | |
| XM_011542845.2:c.1306C>T | XP_011541147.1:p.Pro436Ser | |
| XM_017017789.2:c.2614C>T | XP_016873278.1:p.Pro872Ser | |
| XM_017017790.2:c.2614C>T | XP_016873279.1:p.Pro872Ser | |
| XM_017017791.1:c.2614C>T | XP_016873280.1:p.Pro872Ser | |
| XM_017017792.2:c.2614C>T | XP_016873281.1:p.Pro872Ser | |
| XR_002957150.1:n.3347C>T | ||
| NM_001351834.2:c.2614C>T | NP_001338763.1:p.Pro872Ser | |
| NM_000051.4:c.2614C>T MANE Select | NP_000042.3:p.Pro872Ser |