Linked Data
ClinVar Variation Id:
419332
ClinVar RCV Id:
RCV000484903
RCV002294337
RCV003766670
RCV002506163
RCV003458440
RCV004551581
RCV003147478
RCV003225075
dbSNP Id:
rs121907903
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392019C>T , CM000673.2:g.32392019C>T | GRCh38 |
| NC_000011.9:g.32413565C>T , CM000673.1:g.32413565C>T | GRCh37 |
| NC_000011.8:g.32370141C>T | NCBI36 |
| NG_009272.1:g.48523G>A , LRG_525:g.48523G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1349G>A | ENSP00000331327.5:p.Arg450Gln | |
| ENST00000379077.9:c.*584G>A | ENSP00000368368.5:n.*584G>A | |
| ENST00000379079.8:c.749G>A | ENSP00000368370.2:p.Arg250Gln | |
| ENST00000448076.9:c.1400G>A | ENSP00000413452.5:p.Arg467Gln | |
| ENST00000452863.10:c.1400G>A MANE Select | ENSP00000415516.5:p.Arg467Gln | |
| ENST00000526685.2:n.854G>A | ||
| ENST00000639563.3:c.1349G>A | ENSP00000492269.3:p.Arg450Gln | |
| ENST00000639907.2:n.543G>A | ||
| ENST00000640146.2:c.725G>A | ENSP00000491984.2:p.Arg242Gln | |
| ENST00000650745.1:n.1210G>A | ||
| ENST00000650861.1:n.1981G>A | ||
| ENST00000650986.1:n.63G>A | ||
| ENST00000651459.1:c.171G>A | ||
| ENST00000651533.1:n.446G>A | ||
| ENST00000651668.1:n.337G>A | ||
| ENST00000651794.1:n.1243G>A | ||
| ENST00000651819.1:n.325G>A | ||
| ENST00000652579.1:n.660G>A | ||
| ENST00000652724.1:n.590G>A | ||
| ENST00000332351.7:c.1385G>A | ENSP00000331327.3:p.Arg462Gln | |
| ENST00000379077.7:c.*584G>A | ENSP00000368368.3:n.*584G>A | |
| ENST00000379079.6:c.749G>A | ENSP00000368370.2:p.Arg250Gln | |
| ENST00000448076.7:c.1385G>A | ENSP00000413452.3:p.Arg462Gln | |
| ENST00000452863.7:c.1334G>A | ENSP00000415516.3:p.Arg445Gln | |
| ENST00000527882.5:c.366G>A | ||
| ENST00000530998.5:c.698G>A | ENSP00000435307.1:p.Arg233Gln | |
| NM_000378.4:c.1334G>A | NP_000369.3:p.Arg445Gln | |
| NM_001198551.1:c.749G>A , LRG_525t2:c.749G>A | NP_001185480.1:p.Arg250Gln | |
| NM_001198552.1:c.698G>A | NP_001185481.1:p.Arg233Gln | |
| NM_024424.3:c.1385G>A | NP_077742.2:p.Arg462Gln | |
| NM_024426.4:c.1385G>A | NP_077744.3:p.Arg462Gln | |
| NM_000378.5:c.1349G>A | NP_000369.4:p.Arg450Gln | |
| NM_024424.4:c.1400G>A | NP_077742.3:p.Arg467Gln | |
| NM_024426.5:c.1400G>A | NP_077744.4:p.Arg467Gln | |
| NM_001367854.1:c.212G>A | NP_001354783.1:p.Arg71Gln | |
| NR_160306.1:n.1732G>A | ||
| NM_000378.6:c.1349G>A | NP_000369.4:p.Arg450Gln | |
| NM_001198552.2:c.698G>A | NP_001185481.1:p.Arg233Gln | |
| NM_024424.5:c.1400G>A | NP_077742.3:p.Arg467Gln | |
| NM_024426.6:c.1400G>A MANE Select | NP_077744.4:p.Arg467Gln |