Linked Data
ClinVar Variation Id:
2027299
ClinVar RCV Id:
RCV002866554
dbSNP Id:
rs1817213836
gnomAD v4:
8-99868437-T-G
MyVariant Identifiers:
chr8:g.100880665T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99868437T>G , CM000670.2:g.99868437T>G | GRCh38 |
| NC_000008.10:g.100880665T>G , CM000670.1:g.100880665T>G | GRCh37 |
| NC_000008.9:g.100949841T>G | NCBI36 |
| NG_007098.2:g.860172T>G , LRG_351:g.860172T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*533T>G | ENSP00000507923.1:n.*533T>G | |
| ENST00000682358.1:n.11509T>G | ||
| ENST00000683334.1:c.*7121T>G | ENSP00000507369.1:n.*7121T>G | |
| ENST00000357162.7:c.11364T>G MANE Select | ENSP00000349685.2:p.Ala3788= | |
| ENST00000358544.7:c.11439T>G MANE Plus Clinical | ENSP00000351346.2:p.Ala3813= | |
| ENST00000357162.6:c.11364T>G | ENSP00000349685.2:p.Ala3788= | |
| ENST00000358544.6:c.11439T>G | ENSP00000351346.2:p.Ala3813= | |
| ENST00000493587.1:n.381T>G | ||
| NM_017890.4:c.11439T>G , LRG_351t1:c.11439T>G | NP_060360.3:p.Ala3813= | |
| NM_152564.4:c.11364T>G , LRG_351t2:c.11364T>G | NP_689777.3:p.Ala3788= | |
| XM_005250800.2:c.11439T>G | XP_005250857.1:p.Ala3813= | |
| XM_005250801.3:c.11439T>G | XP_005250858.1:p.Ala3813= | |
| XM_011516848.1:c.11436T>G | XP_011515150.1:p.Ala3812= | |
| XM_011516849.1:c.11361T>G | XP_011515151.1:p.Ala3787= | |
| XM_011516850.1:c.11061T>G | XP_011515152.1:p.Ala3687= | |
| XM_011516851.1:c.8325T>G | XP_011515153.1:p.Ala2775= | |
| XM_011516852.1:c.8325T>G | XP_011515154.1:p.Ala2775= | |
| XM_011516854.1:c.7218T>G | XP_011515156.1:p.Ala2406= | |
| XM_005250800.3:c.11439T>G | XP_005250857.1:p.Ala3813= | |
| XM_005250801.5:c.11439T>G | XP_005250858.1:p.Ala3813= | |
| XM_011516848.2:c.11436T>G | XP_011515150.1:p.Ala3812= | |
| XM_011516849.2:c.11361T>G | XP_011515151.1:p.Ala3787= | |
| XM_011516850.2:c.11061T>G | XP_011515152.1:p.Ala3687= | |
| XM_011516851.2:c.8325T>G | XP_011515153.1:p.Ala2775= | |
| XM_011516852.2:c.8325T>G | XP_011515154.1:p.Ala2775= | |
| XM_011516854.2:c.7218T>G | XP_011515156.1:p.Ala2406= | |
| XM_017013109.1:c.11244T>G | XP_016868598.1:p.Ala3748= | |
| XM_017013111.1:c.8325T>G | XP_016868600.1:p.Ala2775= | |
| XM_017013112.1:c.6996T>G | XP_016868601.1:p.Ala2332= | |
| XM_024447074.1:c.10224T>G | XP_024302842.1:p.Ala3408= | |
| NM_017890.5:c.11439T>G MANE Plus Clinical | NP_060360.3:p.Ala3813= | |
| NM_152564.5:c.11364T>G MANE Select | NP_689777.3:p.Ala3788= |