Linked Data
ClinVar Variation Id:
3494
dbSNP Id:
rs121907909
gnomAD v3:
11-32392032-G-A
gnomAD v4:
11-32392032-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32392032G>A , CM000673.2:g.32392032G>A | GRCh38 |
| NC_000011.9:g.32413578G>A , CM000673.1:g.32413578G>A | GRCh37 |
| NC_000011.8:g.32370154G>A | NCBI36 |
| NG_009272.1:g.48510C>T , LRG_525:g.48510C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1336C>T | ENSP00000331327.5:p.Arg446Ter | |
| ENST00000379077.9:c.*571C>T | ENSP00000368368.5:n.*571C>T | |
| ENST00000379079.8:c.736C>T | ENSP00000368370.2:p.Arg246Ter | |
| ENST00000448076.9:c.1387C>T | ENSP00000413452.5:p.Arg463Ter | |
| ENST00000452863.10:c.1387C>T MANE Select | ENSP00000415516.5:p.Arg463Ter | |
| ENST00000526685.2:n.841C>T | ||
| ENST00000639563.3:c.1336C>T | ENSP00000492269.3:p.Arg446Ter | |
| ENST00000639907.2:n.530C>T | ||
| ENST00000640146.2:c.712C>T | ENSP00000491984.2:p.Arg238Ter | |
| ENST00000650745.1:n.1197C>T | ||
| ENST00000650861.1:n.1968C>T | ||
| ENST00000650986.1:n.50C>T | ||
| ENST00000651459.1:c.158C>T | ||
| ENST00000651533.1:n.433C>T | ||
| ENST00000651668.1:n.324C>T | ||
| ENST00000651794.1:n.1230C>T | ||
| ENST00000651819.1:n.312C>T | ||
| ENST00000652579.1:n.647C>T | ||
| ENST00000652724.1:n.577C>T | ||
| ENST00000332351.7:c.1372C>T | ENSP00000331327.3:p.Arg458Ter | |
| ENST00000379077.7:c.*571C>T | ENSP00000368368.3:n.*571C>T | |
| ENST00000379079.6:c.736C>T | ENSP00000368370.2:p.Arg246Ter | |
| ENST00000448076.7:c.1372C>T | ENSP00000413452.3:p.Arg458Ter | |
| ENST00000452863.7:c.1321C>T | ENSP00000415516.3:p.Arg441Ter | |
| ENST00000527882.5:c.353C>T | ||
| ENST00000530998.5:c.685C>T | ENSP00000435307.1:p.Arg229Ter | |
| NM_000378.4:c.1321C>T | NP_000369.3:p.Arg441Ter | |
| NM_001198551.1:c.736C>T , LRG_525t2:c.736C>T | NP_001185480.1:p.Arg246Ter | |
| NM_001198552.1:c.685C>T | NP_001185481.1:p.Arg229Ter | |
| NM_024424.3:c.1372C>T | NP_077742.2:p.Arg458Ter | |
| NM_024426.4:c.1372C>T | NP_077744.3:p.Arg458Ter | |
| NM_000378.5:c.1336C>T | NP_000369.4:p.Arg446Ter | |
| NM_024424.4:c.1387C>T | NP_077742.3:p.Arg463Ter | |
| NM_024426.5:c.1387C>T | NP_077744.4:p.Arg463Ter | |
| NM_001367854.1:c.199C>T | NP_001354783.1:p.Arg67Ter | |
| NR_160306.1:n.1719C>T | ||
| NM_000378.6:c.1336C>T | NP_000369.4:p.Arg446Ter | |
| NM_001198552.2:c.685C>T | NP_001185481.1:p.Arg229Ter | |
| NM_024424.5:c.1387C>T | NP_077742.3:p.Arg463Ter | |
| NM_024426.6:c.1387C>T MANE Select | NP_077744.4:p.Arg463Ter |