Linked Data
ClinVar Variation Id:
3488
ClinVar RCV Id:
RCV000003659
RCV000484493
RCV001250546
RCV002243617
RCV001851622
RCV002496247
RCV003147274
dbSNP Id:
rs121907901
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392704C>T , CM000673.2:g.32392704C>T | GRCh38 |
| NC_000011.9:g.32414250C>T , CM000673.1:g.32414250C>T | GRCh37 |
| NC_000011.8:g.32370826C>T | NCBI36 |
| NG_009272.1:g.47838G>A , LRG_525:g.47838G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1265G>A | ENSP00000331327.5:p.Arg422His | |
| ENST00000379077.9:c.*500G>A | ENSP00000368368.5:n.*500G>A | |
| ENST00000379079.8:c.665G>A | ENSP00000368370.2:p.Arg222His | |
| ENST00000448076.9:c.1316G>A | ENSP00000413452.5:p.Arg439His | |
| ENST00000452863.10:c.1316G>A MANE Select | ENSP00000415516.5:p.Arg439His | |
| ENST00000526685.2:n.770G>A | ||
| ENST00000639563.3:c.1265G>A | ENSP00000492269.3:p.Arg422His | |
| ENST00000639907.2:n.459G>A | ||
| ENST00000640146.2:c.641G>A | ENSP00000491984.2:p.Arg214His | |
| ENST00000650745.1:n.525G>A | ||
| ENST00000650861.1:n.1897G>A | ||
| ENST00000651459.1:c.87G>A | ||
| ENST00000651533.1:n.362G>A | ||
| ENST00000651668.1:n.253G>A | ||
| ENST00000651794.1:n.1159G>A | ||
| ENST00000651819.1:n.241G>A | ||
| ENST00000652579.1:n.576G>A | ||
| ENST00000652724.1:n.506G>A | ||
| ENST00000332351.7:c.1301G>A | ENSP00000331327.3:p.Arg434His | |
| ENST00000379077.7:c.*500G>A | ENSP00000368368.3:n.*500G>A | |
| ENST00000379079.6:c.665G>A | ENSP00000368370.2:p.Arg222His | |
| ENST00000448076.7:c.1301G>A | ENSP00000413452.3:p.Arg434His | |
| ENST00000452863.7:c.1250G>A | ENSP00000415516.3:p.Arg417His | |
| ENST00000527882.5:c.321-640G>A | ||
| ENST00000530998.5:c.614G>A | ENSP00000435307.1:p.Arg205His | |
| NM_000378.4:c.1250G>A | NP_000369.3:p.Arg417His | |
| NM_001198551.1:c.665G>A , LRG_525t2:c.665G>A | NP_001185480.1:p.Arg222His | |
| NM_001198552.1:c.614G>A | NP_001185481.1:p.Arg205His | |
| NM_024424.3:c.1301G>A | NP_077742.2:p.Arg434His | |
| NM_024426.4:c.1301G>A | NP_077744.3:p.Arg434His | |
| NM_000378.5:c.1265G>A | NP_000369.4:p.Arg422His | |
| NM_024424.4:c.1316G>A | NP_077742.3:p.Arg439His | |
| NM_024426.5:c.1316G>A | NP_077744.4:p.Arg439His | |
| NM_001367854.1:c.128G>A | NP_001354783.1:p.Arg43His | |
| NR_160306.1:n.1648G>A | ||
| NM_000378.6:c.1265G>A | NP_000369.4:p.Arg422His | |
| NM_001198552.2:c.614G>A | NP_001185481.1:p.Arg205His | |
| NM_024424.5:c.1316G>A | NP_077742.3:p.Arg439His | |
| NM_024426.6:c.1316G>A MANE Select | NP_077744.4:p.Arg439His |