Linked Data
ClinVar Variation Id:
1158055
dbSNP Id:
rs766519309
ExAC:
8:100789021 T / C
gnomAD v2:
8-100789021-T-C
gnomAD v4:
8-99776793-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99776793T>C , CM000670.2:g.99776793T>C | GRCh38 |
| NC_000008.10:g.100789021T>C , CM000670.1:g.100789021T>C | GRCh37 |
| NC_000008.9:g.100858197T>C | NCBI36 |
| NG_007098.2:g.768528T>C , LRG_351:g.768528T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.7341T>C | ENSP00000507923.1:p.Gly2447= | |
| ENST00000682358.1:n.7411T>C | ||
| ENST00000683334.1:c.*3023T>C | ENSP00000507369.1:n.*3023T>C | |
| ENST00000357162.7:c.7266T>C MANE Select | ENSP00000349685.2:p.Gly2422= | |
| ENST00000358544.7:c.7341T>C MANE Plus Clinical | ENSP00000351346.2:p.Gly2447= | |
| ENST00000357162.6:c.7266T>C | ENSP00000349685.2:p.Gly2422= | |
| ENST00000358544.6:c.7341T>C | ENSP00000351346.2:p.Gly2447= | |
| ENST00000518569.1:n.378-1889T>C | ||
| NM_017890.4:c.7341T>C , LRG_351t1:c.7341T>C | NP_060360.3:p.Gly2447= | |
| NM_152564.4:c.7266T>C , LRG_351t2:c.7266T>C | NP_689777.3:p.Gly2422= | |
| XM_005250800.2:c.7341T>C | XP_005250857.1:p.Gly2447= | |
| XM_005250801.3:c.7341T>C | XP_005250858.1:p.Gly2447= | |
| XM_011516848.1:c.7338T>C | XP_011515150.1:p.Gly2446= | |
| XM_011516849.1:c.7263T>C | XP_011515151.1:p.Gly2421= | |
| XM_011516850.1:c.6963T>C | XP_011515152.1:p.Gly2321= | |
| XM_011516851.1:c.4227T>C | XP_011515153.1:p.Gly1409= | |
| XM_011516852.1:c.4227T>C | XP_011515154.1:p.Gly1409= | |
| XM_011516853.1:c.7341T>C | XP_011515155.1:p.Gly2447= | |
| XM_011516854.1:c.3120T>C | XP_011515156.1:p.Gly1040= | |
| XR_928446.1:n.1830+5685A>G | ||
| XM_005250800.3:c.7341T>C | XP_005250857.1:p.Gly2447= | |
| XM_005250801.5:c.7341T>C | XP_005250858.1:p.Gly2447= | |
| XM_011516848.2:c.7338T>C | XP_011515150.1:p.Gly2446= | |
| XM_011516849.2:c.7263T>C | XP_011515151.1:p.Gly2421= | |
| XM_011516850.2:c.6963T>C | XP_011515152.1:p.Gly2321= | |
| XM_011516851.2:c.4227T>C | XP_011515153.1:p.Gly1409= | |
| XM_011516852.2:c.4227T>C | XP_011515154.1:p.Gly1409= | |
| XM_011516853.2:c.7341T>C | XP_011515155.1:p.Gly2447= | |
| XM_011516854.2:c.3120T>C | XP_011515156.1:p.Gly1040= | |
| XM_017013109.1:c.7146T>C | XP_016868598.1:p.Gly2382= | |
| XM_017013111.1:c.4227T>C | XP_016868600.1:p.Gly1409= | |
| XM_017013112.1:c.2898T>C | XP_016868601.1:p.Gly966= | |
| XM_024447074.1:c.6126T>C | XP_024302842.1:p.Gly2042= | |
| NM_017890.5:c.7341T>C MANE Plus Clinical | NP_060360.3:p.Gly2447= | |
| NM_152564.5:c.7266T>C MANE Select | NP_689777.3:p.Gly2422= |