Linked Data
ClinVar Variation Id:
449416
ClinVar RCV Id:
RCV000709138
RCV000653779
RCV000523951
RCV004553140
RCV002527574
RCV000988515
RCV003458448
dbSNP Id:
rs1423753702
gnomAD v2:
11-32417947-G-A
gnomAD v3:
11-32396401-G-A
gnomAD v4:
11-32396401-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32396401G>A , CM000673.2:g.32396401G>A | GRCh38 |
| NC_000011.9:g.32417947G>A , CM000673.1:g.32417947G>A | GRCh37 |
| NC_000011.8:g.32374523G>A | NCBI36 |
| NG_009272.1:g.44141C>T , LRG_525:g.44141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1069C>T | ENSP00000331327.5:p.Arg357Ter | |
| ENST00000379077.9:c.*304C>T | ENSP00000368368.5:n.*304C>T | |
| ENST00000379079.8:c.469C>T | ENSP00000368370.2:p.Arg157Ter | |
| ENST00000448076.9:c.1120C>T | ENSP00000413452.5:p.Arg374Ter | |
| ENST00000452863.10:c.1120C>T MANE Select | ENSP00000415516.5:p.Arg374Ter | |
| ENST00000526685.2:n.574C>T | ||
| ENST00000639563.3:c.1069C>T | ENSP00000492269.3:p.Arg357Ter | |
| ENST00000639907.2:n.263C>T | ||
| ENST00000640146.2:c.445C>T | ENSP00000491984.2:p.Arg149Ter | |
| ENST00000650861.1:n.1701C>T | ||
| ENST00000651459.1:c.35+3547C>T | ||
| ENST00000651668.1:n.57C>T | ||
| ENST00000651794.1:n.863C>T | ||
| ENST00000651819.1:n.45C>T | ||
| ENST00000652579.1:n.280C>T | ||
| ENST00000652724.1:n.310C>T | ||
| ENST00000332351.7:c.1105C>T | ENSP00000331327.3:p.Arg369Ter | |
| ENST00000379077.7:c.*304C>T | ENSP00000368368.3:n.*304C>T | |
| ENST00000379079.6:c.469C>T | ENSP00000368370.2:p.Arg157Ter | |
| ENST00000448076.7:c.1105C>T | ENSP00000413452.3:p.Arg369Ter | |
| ENST00000452863.7:c.1054C>T | ENSP00000415516.3:p.Arg352Ter | |
| ENST00000526685.1:c.-69C>T | ENSP00000436292.1:n.-69C>T | |
| ENST00000527775.1:c.358C>T | ENSP00000435351.1:p.Arg120Ter | |
| ENST00000527882.5:c.176C>T | ||
| ENST00000530998.5:c.418C>T | ENSP00000435307.1:p.Arg140Ter | |
| NM_000378.4:c.1054C>T | NP_000369.3:p.Arg352Ter | |
| NM_001198551.1:c.469C>T , LRG_525t2:c.469C>T | NP_001185480.1:p.Arg157Ter | |
| NM_001198552.1:c.418C>T | NP_001185481.1:p.Arg140Ter | |
| NM_024424.3:c.1105C>T | NP_077742.2:p.Arg369Ter | |
| NM_024426.4:c.1105C>T | NP_077744.3:p.Arg369Ter | |
| NM_000378.5:c.1069C>T | NP_000369.4:p.Arg357Ter | |
| NM_024424.4:c.1120C>T | NP_077742.3:p.Arg374Ter | |
| NM_024426.5:c.1120C>T | NP_077744.4:p.Arg374Ter | |
| NM_001367854.1:c.-69C>T | NP_001354783.1:n.-69C>T | |
| NR_160306.1:n.1452C>T | ||
| NM_000378.6:c.1069C>T | NP_000369.4:p.Arg357Ter | |
| NM_001198552.2:c.418C>T | NP_001185481.1:p.Arg140Ter | |
| NM_024424.5:c.1120C>T | NP_077742.3:p.Arg374Ter | |
| NM_024426.6:c.1120C>T MANE Select | NP_077744.4:p.Arg374Ter |