Linked Data
ClinVar Variation Id:
351240
dbSNP Id:
rs138582560
ExAC:
5:140059387 G / A
gnomAD v2:
5-140059387-G-A
gnomAD v3:
5-140679802-G-A
gnomAD v4:
5-140679802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140679802G>A , CM000667.2:g.140679802G>A | GRCh38 |
| NC_000005.9:g.140059387G>A , CM000667.1:g.140059387G>A | GRCh37 |
| NC_000005.8:g.140039571G>A | NCBI36 |
| NG_032158.1:g.16585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431330.7:c.181-1787C>T | ENSP00000393244.2:n.181-1787C>T | |
| ENST00000504156.7:c.382C>T MANE Select | ENSP00000425634.1:p.Arg128Cys | |
| ENST00000506579.6:n.467C>T | ||
| ENST00000507746.7:c.382C>T | ENSP00000425889.2:p.Arg128Cys | |
| ENST00000509087.2:c.181-4669C>T | ENSP00000502781.1:n.181-4669C>T | |
| ENST00000512396.6:c.*321C>T | ENSP00000421576.1:n.*321C>T | |
| ENST00000518126.6:n.421C>T | ||
| ENST00000643686.1:c.*437C>T | ENSP00000493611.1:n.*437C>T | |
| ENST00000645491.1:c.*315C>T | ENSP00000494297.1:n.*315C>T | |
| ENST00000646229.1:c.433C>T | ||
| ENST00000674523.1:c.382C>T | ENSP00000501816.1:p.Arg128Cys | |
| ENST00000675094.1:n.467C>T | ||
| ENST00000675204.1:c.382C>T | ENSP00000501643.1:p.Arg128Cys | |
| ENST00000675355.1:n.227C>T | ||
| ENST00000675366.1:c.382C>T | ENSP00000501747.1:p.Arg128Cys | |
| ENST00000675698.1:c.175C>T | ENSP00000501581.1:p.Arg59Cys | |
| ENST00000675763.1:n.1303C>T | ||
| ENST00000675827.1:c.382C>T | ENSP00000501900.1:p.Arg128Cys | |
| ENST00000675851.1:c.301-2049C>T | ENSP00000502624.1:n.301-2049C>T | |
| ENST00000675898.1:n.554C>T | ||
| ENST00000675967.1:n.856C>T | ||
| ENST00000676327.1:c.382C>T | ENSP00000502594.1:p.Arg128Cys | |
| ENST00000307633.7:c.262C>T | ENSP00000304668.3:p.Arg88Cys | |
| ENST00000415192.6:c.301-1787C>T | ENSP00000411085.2:n.301-1787C>T | |
| ENST00000431330.6:c.181-1787C>T | ENSP00000393244.2:n.181-1787C>T | |
| ENST00000438307.6:c.262C>T | ENSP00000411511.2:p.Arg88Cys | |
| ENST00000457527.6:c.382C>T | ENSP00000387893.2:p.Arg128Cys | |
| ENST00000504156.5:c.382C>T | ENSP00000425634.1:p.Arg128Cys | |
| ENST00000504366.5:c.175C>T | ENSP00000430063.1:p.Arg59Cys | |
| ENST00000506579.5:n.299C>T | ||
| ENST00000507746.5:c.301-2049C>T | ENSP00000425889.1:n.301-2049C>T | |
| ENST00000512396.5:c.*321C>T | ENSP00000421576.1:n.*321C>T | |
| ENST00000518126.5:n.417C>T | ||
| NM_001258040.2:c.262C>T | NP_001244969.1:p.Arg88Cys | |
| NM_001258041.2:c.382C>T | NP_001244970.1:p.Arg128Cys | |
| NM_001258042.2:c.262C>T | NP_001244971.1:p.Arg88Cys | |
| NM_001289092.1:c.301-1787C>T | NP_001276021.1:n.301-1787C>T | |
| NM_001289093.1:c.181-1787C>T | NP_001276022.1:n.181-1787C>T | |
| NM_001289094.1:c.295C>T | NP_001276023.1:p.Arg99Cys | |
| NM_002109.5:c.382C>T | NP_002100.2:p.Arg128Cys | |
| NM_002109.6:c.382C>T MANE Select | NP_002100.2:p.Arg128Cys | |
| NM_001258040.3:c.262C>T | NP_001244969.1:p.Arg88Cys | |
| NM_001258041.3:c.382C>T | NP_001244970.1:p.Arg128Cys | |
| NM_001258042.3:c.262C>T | NP_001244971.1:p.Arg88Cys | |
| NM_001289092.2:c.301-1787C>T | NP_001276021.1:n.301-1787C>T | |
| NM_001289093.2:c.181-1787C>T | NP_001276022.1:n.181-1787C>T | |
| NM_001289094.2:c.295C>T | NP_001276023.1:p.Arg99Cys |