Linked Data
ClinVar Variation Id:
2966630
ClinVar RCV Id:
RCV003828764
dbSNP Id:
rs899873493
gnomAD v4:
8-99868404-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99868404C>T , CM000670.2:g.99868404C>T | GRCh38 |
| NC_000008.10:g.100880632C>T , CM000670.1:g.100880632C>T | GRCh37 |
| NC_000008.9:g.100949808C>T | NCBI36 |
| NG_007098.2:g.860139C>T , LRG_351:g.860139C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*500C>T | ENSP00000507923.1:n.*500C>T | |
| ENST00000682358.1:n.11476C>T | ||
| ENST00000683334.1:c.*7088C>T | ENSP00000507369.1:n.*7088C>T | |
| ENST00000357162.7:c.11331C>T MANE Select | ENSP00000349685.2:p.Ile3777= | |
| ENST00000358544.7:c.11406C>T MANE Plus Clinical | ENSP00000351346.2:p.Ile3802= | |
| ENST00000357162.6:c.11331C>T | ENSP00000349685.2:p.Ile3777= | |
| ENST00000358544.6:c.11406C>T | ENSP00000351346.2:p.Ile3802= | |
| ENST00000493587.1:n.348C>T | ||
| NM_017890.4:c.11406C>T , LRG_351t1:c.11406C>T | NP_060360.3:p.Ile3802= | |
| NM_152564.4:c.11331C>T , LRG_351t2:c.11331C>T | NP_689777.3:p.Ile3777= | |
| XM_005250800.2:c.11406C>T | XP_005250857.1:p.Ile3802= | |
| XM_005250801.3:c.11406C>T | XP_005250858.1:p.Ile3802= | |
| XM_011516848.1:c.11403C>T | XP_011515150.1:p.Ile3801= | |
| XM_011516849.1:c.11328C>T | XP_011515151.1:p.Ile3776= | |
| XM_011516850.1:c.11028C>T | XP_011515152.1:p.Ile3676= | |
| XM_011516851.1:c.8292C>T | XP_011515153.1:p.Ile2764= | |
| XM_011516852.1:c.8292C>T | XP_011515154.1:p.Ile2764= | |
| XM_011516854.1:c.7185C>T | XP_011515156.1:p.Ile2395= | |
| XM_005250800.3:c.11406C>T | XP_005250857.1:p.Ile3802= | |
| XM_005250801.5:c.11406C>T | XP_005250858.1:p.Ile3802= | |
| XM_011516848.2:c.11403C>T | XP_011515150.1:p.Ile3801= | |
| XM_011516849.2:c.11328C>T | XP_011515151.1:p.Ile3776= | |
| XM_011516850.2:c.11028C>T | XP_011515152.1:p.Ile3676= | |
| XM_011516851.2:c.8292C>T | XP_011515153.1:p.Ile2764= | |
| XM_011516852.2:c.8292C>T | XP_011515154.1:p.Ile2764= | |
| XM_011516854.2:c.7185C>T | XP_011515156.1:p.Ile2395= | |
| XM_017013109.1:c.11211C>T | XP_016868598.1:p.Ile3737= | |
| XM_017013111.1:c.8292C>T | XP_016868600.1:p.Ile2764= | |
| XM_017013112.1:c.6963C>T | XP_016868601.1:p.Ile2321= | |
| XM_024447074.1:c.10191C>T | XP_024302842.1:p.Ile3397= | |
| NM_017890.5:c.11406C>T MANE Plus Clinical | NP_060360.3:p.Ile3802= | |
| NM_152564.5:c.11331C>T MANE Select | NP_689777.3:p.Ile3777= |