Linked Data
ClinVar Variation Id:
185048
ClinVar RCV Id:
RCV000164406
RCV000227954
RCV000235877
RCV000709431
RCV001356854
RCV001798583
RCV002463438
RCV003162688
dbSNP Id:
rs750621215
ExAC:
17:33428225 G / A
gnomAD v2:
17-33428225-G-A
gnomAD v3:
17-35101206-G-A
gnomAD v4:
17-35101206-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35101206G>A , CM000679.2:g.35101206G>A | GRCh38 |
| NC_000017.10:g.33428225G>A , CM000679.1:g.33428225G>A | GRCh37 |
| NC_000017.9:g.30452338G>A | NCBI36 |
| NG_031858.1:g.23664C>T , LRG_516:g.23664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.763C>T | ENSP00000468273.3:p.Arg255Ter | |
| ENST00000587405.6:c.541C>T | ENSP00000466478.2:p.Arg181Ter | |
| ENST00000590016.6:c.958C>T | ENSP00000466399.1:p.Arg320Ter | |
| ENST00000592577.6:c.541C>T | ENSP00000466839.2:p.Arg181Ter | |
| ENST00000345365.11:c.898C>T MANE Select | ENSP00000338790.6:p.Arg300Ter | |
| ENST00000335858.11:c.562C>T | ENSP00000338408.6:p.Arg188Ter | |
| ENST00000345365.10:c.898C>T | ENSP00000338790.6:p.Arg300Ter | |
| ENST00000394589.8:c.898C>T | ENSP00000378090.4:p.Arg300Ter | |
| ENST00000460118.6:c.367C>T | ENSP00000464356.2:p.Arg123Ter | |
| ENST00000586044.5:c.*629C>T | ENSP00000465584.1:n.*629C>T | |
| ENST00000586210.5:c.*492C>T | ENSP00000465612.1:n.*492C>T | |
| ENST00000587977.5:c.*638C>T | ENSP00000466587.1:n.*638C>T | |
| ENST00000588372.5:c.*381C>T | ENSP00000468764.1:n.*381C>T | |
| ENST00000588594.5:c.*494C>T | ENSP00000465366.1:n.*494C>T | |
| ENST00000590016.5:c.958C>T | ENSP00000466399.1:p.Arg320Ter | |
| ENST00000591723.5:c.367C>T | ENSP00000467986.1:p.Arg123Ter | |
| ENST00000592181.1:c.541C>T | ENSP00000464799.1:p.Arg181Ter | |
| ENST00000593039.5:c.421C>T | ENSP00000466834.1:p.Arg141Ter | |
| NM_001142571.1:c.958C>T | NP_001136043.1:p.Arg320Ter | |
| NM_002878.3:c.898C>T , LRG_516t1:c.898C>T | NP_002869.3:p.Arg300Ter | |
| NM_133629.2:c.562C>T | NP_598332.1:p.Arg188Ter | |
| NR_037711.1:n.1035C>T | ||
| NR_037712.1:n.900C>T | ||
| NR_037714.1:n.650C>T | ||
| NM_001142571.2:c.958C>T | NP_001136043.1:p.Arg320Ter | |
| NM_133629.3:c.562C>T | NP_598332.1:p.Arg188Ter | |
| NR_037711.2:n.924C>T | ||
| NR_037712.2:n.789C>T | ||
| NM_002878.4:c.898C>T MANE Select | NP_002869.3:p.Arg300Ter |