Linked Data
ClinVar Variation Id:
182856
ClinVar RCV Id:
RCV000160945
RCV000227224
RCV000586341
RCV000709444
RCV001354078
RCV001420703
RCV001798559
dbSNP Id:
rs201313861
ExAC:
17:33434132 A / G
gnomAD v2:
17-33434132-A-G
gnomAD v3:
17-35107113-A-G
gnomAD v4:
17-35107113-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35107113A>G , CM000679.2:g.35107113A>G | GRCh38 |
| NC_000017.10:g.33434132A>G , CM000679.1:g.33434132A>G | GRCh37 |
| NC_000017.9:g.30458245A>G | NCBI36 |
| NG_031858.1:g.17757T>C , LRG_516:g.17757T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.345+253T>C | ENSP00000468273.3:n.345+253T>C | |
| ENST00000587405.6:c.-3T>C | ENSP00000466478.2:n.-3T>C | |
| ENST00000590016.6:c.415T>C | ENSP00000466399.1:p.Cys139Arg | |
| ENST00000590631.2:n.437-632T>C | ||
| ENST00000592577.6:c.-3T>C | ENSP00000466839.2:n.-3T>C | |
| ENST00000345365.11:c.355T>C MANE Select | ENSP00000338790.6:p.Cys119Arg | |
| ENST00000335858.11:c.145-632T>C | ENSP00000338408.6:n.145-632T>C | |
| ENST00000345365.10:c.355T>C | ENSP00000338790.6:p.Cys119Arg | |
| ENST00000394589.8:c.355T>C | ENSP00000378090.4:p.Cys119Arg | |
| ENST00000415064.6:n.505T>C | ||
| ENST00000460118.6:c.-125-52T>C | ENSP00000464356.2:n.-125-52T>C | |
| ENST00000585343.5:c.437T>C | ||
| ENST00000585947.5:n.251T>C | ||
| ENST00000585982.5:n.500+253T>C | ||
| ENST00000586044.5:c.*86T>C | ENSP00000465584.1:n.*86T>C | |
| ENST00000586186.2:c.248+253T>C | ||
| ENST00000586210.5:c.273T>C | ENSP00000465612.1:p.Ser91= | |
| ENST00000587405.5:c.-3T>C | ENSP00000466478.1:n.-3T>C | |
| ENST00000587977.5:c.*95T>C | ENSP00000466587.1:n.*95T>C | |
| ENST00000587982.5:n.273+253T>C | ||
| ENST00000588372.5:c.-3T>C | ENSP00000468764.1:n.-3T>C | |
| ENST00000588594.5:c.*76+253T>C | ENSP00000465366.1:n.*76+253T>C | |
| ENST00000590016.5:c.415T>C | ENSP00000466399.1:p.Cys139Arg | |
| ENST00000590631.1:c.-51-632T>C | ENSP00000465033.1:n.-51-632T>C | |
| ENST00000591723.5:c.-52+253T>C | ENSP00000467986.1:n.-52+253T>C | |
| ENST00000592181.1:c.-3T>C | ENSP00000464799.1:n.-3T>C | |
| ENST00000592430.5:n.324T>C | ||
| ENST00000592577.5:c.361T>C | ENSP00000466839.1:p.Cys121Arg | |
| ENST00000592850.5:c.346-632T>C | ||
| ENST00000592928.2:n.167-632T>C | ||
| ENST00000593039.5:c.4-632T>C | ENSP00000466834.1:n.4-632T>C | |
| NM_001142571.1:c.415T>C | NP_001136043.1:p.Cys139Arg | |
| NM_002878.3:c.355T>C , LRG_516t1:c.355T>C | NP_002869.3:p.Cys119Arg | |
| NM_133629.2:c.145-632T>C | NP_598332.1:n.145-632T>C | |
| NR_037711.1:n.492T>C | ||
| NR_037712.1:n.482+253T>C | ||
| NR_037714.1:n.233-632T>C | ||
| NM_001142571.2:c.415T>C | NP_001136043.1:p.Cys139Arg | |
| NM_133629.3:c.145-632T>C | NP_598332.1:n.145-632T>C | |
| NR_037711.2:n.381T>C | ||
| NR_037712.2:n.371+253T>C | ||
| NM_002878.4:c.355T>C MANE Select | NP_002869.3:p.Cys119Arg |