Linked Data
ClinVar Variation Id:
1981686
ClinVar RCV Id:
RCV002751610
dbSNP Id:
rs1346807622
gnomAD v2:
8-100874093-G-A
gnomAD v4:
8-99861865-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99861865G>A , CM000670.2:g.99861865G>A | GRCh38 |
| NC_000008.10:g.100874093G>A , CM000670.1:g.100874093G>A | GRCh37 |
| NC_000008.9:g.100943269G>A | NCBI36 |
| NG_007098.2:g.853600G>A , LRG_351:g.853600G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*303G>A | ENSP00000507923.1:n.*303G>A | |
| ENST00000682358.1:n.11279G>A | ||
| ENST00000683334.1:c.*6891G>A | ENSP00000507369.1:n.*6891G>A | |
| ENST00000357162.7:c.11134G>A MANE Select | ENSP00000349685.2:p.Glu3712Lys | |
| ENST00000358544.7:c.11209G>A MANE Plus Clinical | ENSP00000351346.2:p.Glu3737Lys | |
| ENST00000357162.6:c.11134G>A | ENSP00000349685.2:p.Glu3712Lys | |
| ENST00000358544.6:c.11209G>A | ENSP00000351346.2:p.Glu3737Lys | |
| NM_017890.4:c.11209G>A , LRG_351t1:c.11209G>A | NP_060360.3:p.Glu3737Lys | |
| NM_152564.4:c.11134G>A , LRG_351t2:c.11134G>A | NP_689777.3:p.Glu3712Lys | |
| XM_005250800.2:c.11209G>A | XP_005250857.1:p.Glu3737Lys | |
| XM_005250801.3:c.11209G>A | XP_005250858.1:p.Glu3737Lys | |
| XM_011516848.1:c.11206G>A | XP_011515150.1:p.Glu3736Lys | |
| XM_011516849.1:c.11131G>A | XP_011515151.1:p.Glu3711Lys | |
| XM_011516850.1:c.10831G>A | XP_011515152.1:p.Glu3611Lys | |
| XM_011516851.1:c.8095G>A | XP_011515153.1:p.Glu2699Lys | |
| XM_011516852.1:c.8095G>A | XP_011515154.1:p.Glu2699Lys | |
| XM_011516854.1:c.6988G>A | XP_011515156.1:p.Glu2330Lys | |
| XM_005250800.3:c.11209G>A | XP_005250857.1:p.Glu3737Lys | |
| XM_005250801.5:c.11209G>A | XP_005250858.1:p.Glu3737Lys | |
| XM_011516848.2:c.11206G>A | XP_011515150.1:p.Glu3736Lys | |
| XM_011516849.2:c.11131G>A | XP_011515151.1:p.Glu3711Lys | |
| XM_011516850.2:c.10831G>A | XP_011515152.1:p.Glu3611Lys | |
| XM_011516851.2:c.8095G>A | XP_011515153.1:p.Glu2699Lys | |
| XM_011516852.2:c.8095G>A | XP_011515154.1:p.Glu2699Lys | |
| XM_011516854.2:c.6988G>A | XP_011515156.1:p.Glu2330Lys | |
| XM_017013109.1:c.11014G>A | XP_016868598.1:p.Glu3672Lys | |
| XM_017013111.1:c.8095G>A | XP_016868600.1:p.Glu2699Lys | |
| XM_017013112.1:c.6766G>A | XP_016868601.1:p.Glu2256Lys | |
| XM_024447074.1:c.9994G>A | XP_024302842.1:p.Glu3332Lys | |
| NM_017890.5:c.11209G>A MANE Plus Clinical | NP_060360.3:p.Glu3737Lys | |
| NM_152564.5:c.11134G>A MANE Select | NP_689777.3:p.Glu3712Lys |