Linked Data
ClinVar Variation Id:
1133697
ClinVar RCV Id:
RCV001468333
dbSNP Id:
rs2130941627
gnomAD v4:
8-99861786-A-G
MyVariant Identifiers:
chr8:g.100874014A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99861786A>G , CM000670.2:g.99861786A>G | GRCh38 |
| NC_000008.10:g.100874014A>G , CM000670.1:g.100874014A>G | GRCh37 |
| NC_000008.9:g.100943190A>G | NCBI36 |
| NG_007098.2:g.853521A>G , LRG_351:g.853521A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*224A>G | ENSP00000507923.1:n.*224A>G | |
| ENST00000682358.1:n.11200A>G | ||
| ENST00000683334.1:c.*6812A>G | ENSP00000507369.1:n.*6812A>G | |
| ENST00000357162.7:c.11055A>G MANE Select | ENSP00000349685.2:p.Thr3685= | |
| ENST00000358544.7:c.11130A>G MANE Plus Clinical | ENSP00000351346.2:p.Thr3710= | |
| ENST00000357162.6:c.11055A>G | ENSP00000349685.2:p.Thr3685= | |
| ENST00000358544.6:c.11130A>G | ENSP00000351346.2:p.Thr3710= | |
| NM_017890.4:c.11130A>G , LRG_351t1:c.11130A>G | NP_060360.3:p.Thr3710= | |
| NM_152564.4:c.11055A>G , LRG_351t2:c.11055A>G | NP_689777.3:p.Thr3685= | |
| XM_005250800.2:c.11130A>G | XP_005250857.1:p.Thr3710= | |
| XM_005250801.3:c.11130A>G | XP_005250858.1:p.Thr3710= | |
| XM_011516848.1:c.11127A>G | XP_011515150.1:p.Thr3709= | |
| XM_011516849.1:c.11052A>G | XP_011515151.1:p.Thr3684= | |
| XM_011516850.1:c.10752A>G | XP_011515152.1:p.Thr3584= | |
| XM_011516851.1:c.8016A>G | XP_011515153.1:p.Thr2672= | |
| XM_011516852.1:c.8016A>G | XP_011515154.1:p.Thr2672= | |
| XM_011516854.1:c.6909A>G | XP_011515156.1:p.Thr2303= | |
| XM_005250800.3:c.11130A>G | XP_005250857.1:p.Thr3710= | |
| XM_005250801.5:c.11130A>G | XP_005250858.1:p.Thr3710= | |
| XM_011516848.2:c.11127A>G | XP_011515150.1:p.Thr3709= | |
| XM_011516849.2:c.11052A>G | XP_011515151.1:p.Thr3684= | |
| XM_011516850.2:c.10752A>G | XP_011515152.1:p.Thr3584= | |
| XM_011516851.2:c.8016A>G | XP_011515153.1:p.Thr2672= | |
| XM_011516852.2:c.8016A>G | XP_011515154.1:p.Thr2672= | |
| XM_011516854.2:c.6909A>G | XP_011515156.1:p.Thr2303= | |
| XM_017013109.1:c.10935A>G | XP_016868598.1:p.Thr3645= | |
| XM_017013111.1:c.8016A>G | XP_016868600.1:p.Thr2672= | |
| XM_017013112.1:c.6687A>G | XP_016868601.1:p.Thr2229= | |
| XM_024447074.1:c.9915A>G | XP_024302842.1:p.Thr3305= | |
| NM_017890.5:c.11130A>G MANE Plus Clinical | NP_060360.3:p.Thr3710= | |
| NM_152564.5:c.11055A>G MANE Select | NP_689777.3:p.Thr3685= |