Linked Data
ClinVar Variation Id:
1633055
ClinVar RCV Id:
RCV002142519
dbSNP Id:
rs1416935495
gnomAD v2:
11-686873-C-T
gnomAD v3:
11-686873-C-T
gnomAD v4:
11-686873-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.686873C>T , CM000673.2:g.686873C>T | GRCh38 |
| NC_000011.9:g.686873C>T , CM000673.1:g.686873C>T | GRCh37 |
| NC_000011.8:g.676873C>T | NCBI36 |
| NG_034156.1:g.13882G>A | |
| NG_034156.2:g.25211G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525626.6:n.674G>A | ||
| ENST00000528864.6:n.675G>A | ||
| ENST00000530813.2:c.*412G>A | ENSP00000508507.1:n.*412G>A | |
| ENST00000682936.1:n.549G>A | ||
| ENST00000683307.1:c.63G>A | ENSP00000507198.1:p.Leu21= | |
| ENST00000684249.1:n.977G>A | ||
| ENST00000685854.1:c.585G>A | ENSP00000508801.1:p.Leu195= | |
| ENST00000686001.1:c.585G>A | ENSP00000508459.1:p.Leu195= | |
| ENST00000687329.1:c.585G>A | ENSP00000510598.1:p.Leu195= | |
| ENST00000689835.1:c.585G>A | ENSP00000510621.1:p.Leu195= | |
| ENST00000690068.1:c.585G>A | ENSP00000509089.1:p.Leu195= | |
| ENST00000692634.1:c.585G>A | ENSP00000508859.1:p.Leu195= | |
| ENST00000693164.1:n.783G>A | ||
| ENST00000382409.4:c.789G>A MANE Select | ENSP00000371846.3:p.Leu263= | |
| ENST00000382409.3:c.789G>A | ENSP00000371846.3:p.Leu263= | |
| ENST00000527170.5:c.151G>A | ||
| NM_001293634.1:c.664+1038G>A | NP_001280563.1:n.664+1038G>A | |
| NM_021008.3:c.789G>A | NP_066288.2:p.Leu263= | |
| XM_011519842.1:c.789G>A | XP_011518144.1:p.Leu263= | |
| XM_011519843.1:c.789G>A | XP_011518145.1:p.Leu263= | |
| XR_428838.2:n.795G>A | ||
| XR_930843.1:n.795G>A | ||
| XM_011519842.3:c.789G>A | XP_011518144.1:p.Leu263= | |
| XM_024448325.1:c.789G>A | XP_024304093.1:p.Leu263= | |
| XM_024448326.1:c.789G>A | XP_024304094.1:p.Leu263= | |
| XM_024448327.1:c.789G>A | XP_024304095.1:p.Leu263= | |
| NM_001367390.1:c.63G>A | NP_001354319.1:p.Leu21= | |
| NM_021008.4:c.789G>A MANE Select | NP_066288.2:p.Leu263= |