Linked Data
ClinVar Variation Id:
421909
ClinVar RCV Id:
RCV000481428
dbSNP Id:
rs1064795440
gnomAD v2:
8-12960336-G-A
gnomAD v3:
8-13102827-G-A
gnomAD v4:
8-13102827-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.13102827G>A , CM000670.2:g.13102827G>A | GRCh38 |
| NC_000008.10:g.12960336G>A , CM000670.1:g.12960336G>A | GRCh37 |
| NC_000008.9:g.13004707G>A | NCBI36 |
| NG_015998.1:g.417094C>T | |
| NG_015998.2:g.506779C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276297.9:c.1529C>T MANE Select | ENSP00000276297.4:p.Ala510Val | |
| ENST00000276297.8:c.1529C>T | ENSP00000276297.4:p.Ala510Val | |
| ENST00000358919.6:c.218C>T | ENSP00000351797.2:p.Ala73Val | |
| ENST00000503161.6:c.-57C>T | ENSP00000429537.1:n.-57C>T | |
| ENST00000509922.5:n.245-2057C>T | ||
| ENST00000512044.6:c.320C>T | ENSP00000422595.2:p.Ala107Val | |
| ENST00000515225.1:n.501-2057C>T | ||
| ENST00000520226.5:c.-5C>T | ENSP00000428028.1:n.-5C>T | |
| NM_001164271.1:c.-5C>T | NP_001157743.1:n.-5C>T | |
| NM_001316668.1:c.320C>T | NP_001303597.1:p.Ala107Val | |
| NM_006094.4:c.218C>T | NP_006085.2:p.Ala73Val | |
| NM_182643.2:c.1529C>T | NP_872584.2:p.Ala510Val | |
| XM_005273374.1:c.1529C>T | XP_005273431.1:p.Ala510Val | |
| NM_001348081.1:c.1529C>T | NP_001335010.1:p.Ala510Val | |
| NM_001348082.1:c.-5C>T | NP_001335011.1:n.-5C>T | |
| NM_001348083.1:c.-5C>T | NP_001335012.1:n.-5C>T | |
| NM_001348084.1:c.-5C>T | NP_001335013.1:n.-5C>T | |
| NM_182643.3:c.1529C>T MANE Select | NP_872584.2:p.Ala510Val | |
| NM_001316668.2:c.320C>T | NP_001303597.1:p.Ala107Val | |
| NM_001348081.2:c.1529C>T | NP_001335010.1:p.Ala510Val | |
| NM_001348082.2:c.-5C>T | NP_001335011.1:n.-5C>T | |
| NM_001348084.2:c.-5C>T | NP_001335013.1:n.-5C>T | |
| NM_006094.5:c.218C>T | NP_006085.2:p.Ala73Val | |
| NM_001164271.2:c.-5C>T | NP_001157743.1:n.-5C>T |