Linked Data
ClinVar Variation Id:
30285
ClinVar RCV Id:
RCV000023220
RCV000129358
RCV000589947
RCV000479705
RCV001357904
RCV002463429
RCV001271049
dbSNP Id:
rs387906843
ExAC:
17:33433425 G / A
gnomAD v2:
17-33433425-G-A
gnomAD v3:
17-35106406-G-A
gnomAD v4:
17-35106406-G-A
CIViC:
CA129082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35106406G>A , CM000679.2:g.35106406G>A | GRCh38 |
| NC_000017.10:g.33433425G>A , CM000679.1:g.33433425G>A | GRCh37 |
| NC_000017.9:g.30457538G>A | NCBI36 |
| NG_031858.1:g.18464C>T , LRG_516:g.18464C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.421C>T | ENSP00000468273.3:p.Arg141Ter | |
| ENST00000587405.6:c.199C>T | ENSP00000466478.2:p.Arg67Ter | |
| ENST00000590016.6:c.616C>T | ENSP00000466399.1:p.Arg206Ter | |
| ENST00000590631.2:n.512C>T | ||
| ENST00000592577.6:c.199C>T | ENSP00000466839.2:p.Arg67Ter | |
| ENST00000345365.11:c.556C>T MANE Select | ENSP00000338790.6:p.Arg186Ter | |
| ENST00000335858.11:c.220C>T | ENSP00000338408.6:p.Arg74Ter | |
| ENST00000345365.10:c.556C>T | ENSP00000338790.6:p.Arg186Ter | |
| ENST00000394589.8:c.556C>T | ENSP00000378090.4:p.Arg186Ter | |
| ENST00000415064.6:n.706C>T | ||
| ENST00000460118.6:c.25C>T | ENSP00000464356.2:p.Arg9Ter | |
| ENST00000585947.5:n.452C>T | ||
| ENST00000585982.5:n.576C>T | ||
| ENST00000586044.5:c.*287C>T | ENSP00000465584.1:n.*287C>T | |
| ENST00000586210.5:c.*150C>T | ENSP00000465612.1:n.*150C>T | |
| ENST00000587405.5:c.199C>T | ENSP00000466478.1:p.Arg67Ter | |
| ENST00000587977.5:c.*296C>T | ENSP00000466587.1:n.*296C>T | |
| ENST00000587982.5:n.349C>T | ||
| ENST00000588372.5:c.199C>T | ENSP00000468764.1:p.Arg67Ter | |
| ENST00000588594.5:c.*152C>T | ENSP00000465366.1:n.*152C>T | |
| ENST00000590016.5:c.616C>T | ENSP00000466399.1:p.Arg206Ter | |
| ENST00000590631.1:c.25C>T | ENSP00000465033.1:p.Arg9Ter | |
| ENST00000591723.5:c.25C>T | ENSP00000467986.1:p.Arg9Ter | |
| ENST00000592181.1:c.199C>T | ENSP00000464799.1:p.Arg67Ter | |
| ENST00000592430.5:n.525C>T | ||
| ENST00000592577.5:c.562C>T | ENSP00000466839.1:p.Arg188Ter | |
| ENST00000593039.5:c.79C>T | ENSP00000466834.1:p.Arg27Ter | |
| NM_001142571.1:c.616C>T | NP_001136043.1:p.Arg206Ter | |
| NM_002878.3:c.556C>T , LRG_516t1:c.556C>T | NP_002869.3:p.Arg186Ter | |
| NM_133629.2:c.220C>T | NP_598332.1:p.Arg74Ter | |
| NR_037711.1:n.693C>T | ||
| NR_037712.1:n.558C>T | ||
| NR_037714.1:n.308C>T | ||
| NM_001142571.2:c.616C>T | NP_001136043.1:p.Arg206Ter | |
| NM_133629.3:c.220C>T | NP_598332.1:p.Arg74Ter | |
| NR_037711.2:n.582C>T | ||
| NR_037712.2:n.447C>T | ||
| NM_002878.4:c.556C>T MANE Select | NP_002869.3:p.Arg186Ter |