Linked Data
ClinVar Variation Id:
655502
ClinVar RCV Id:
RCV000811695
dbSNP Id:
rs773324603
ExAC:
8:100874105 C / T
gnomAD v2:
8-100874105-C-T
gnomAD v3:
8-99861877-C-T
gnomAD v4:
8-99861877-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99861877C>T , CM000670.2:g.99861877C>T | GRCh38 |
| NC_000008.10:g.100874105C>T , CM000670.1:g.100874105C>T | GRCh37 |
| NC_000008.9:g.100943281C>T | NCBI36 |
| NG_007098.2:g.853612C>T , LRG_351:g.853612C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*315C>T | ENSP00000507923.1:n.*315C>T | |
| ENST00000682358.1:n.11291C>T | ||
| ENST00000683334.1:c.*6903C>T | ENSP00000507369.1:n.*6903C>T | |
| ENST00000357162.7:c.11146C>T MANE Select | ENSP00000349685.2:p.Arg3716Trp | |
| ENST00000358544.7:c.11221C>T MANE Plus Clinical | ENSP00000351346.2:p.Arg3741Trp | |
| ENST00000357162.6:c.11146C>T | ENSP00000349685.2:p.Arg3716Trp | |
| ENST00000358544.6:c.11221C>T | ENSP00000351346.2:p.Arg3741Trp | |
| NM_017890.4:c.11221C>T , LRG_351t1:c.11221C>T | NP_060360.3:p.Arg3741Trp | |
| NM_152564.4:c.11146C>T , LRG_351t2:c.11146C>T | NP_689777.3:p.Arg3716Trp | |
| XM_005250800.2:c.11221C>T | XP_005250857.1:p.Arg3741Trp | |
| XM_005250801.3:c.11221C>T | XP_005250858.1:p.Arg3741Trp | |
| XM_011516848.1:c.11218C>T | XP_011515150.1:p.Arg3740Trp | |
| XM_011516849.1:c.11143C>T | XP_011515151.1:p.Arg3715Trp | |
| XM_011516850.1:c.10843C>T | XP_011515152.1:p.Arg3615Trp | |
| XM_011516851.1:c.8107C>T | XP_011515153.1:p.Arg2703Trp | |
| XM_011516852.1:c.8107C>T | XP_011515154.1:p.Arg2703Trp | |
| XM_011516854.1:c.7000C>T | XP_011515156.1:p.Arg2334Trp | |
| XM_005250800.3:c.11221C>T | XP_005250857.1:p.Arg3741Trp | |
| XM_005250801.5:c.11221C>T | XP_005250858.1:p.Arg3741Trp | |
| XM_011516848.2:c.11218C>T | XP_011515150.1:p.Arg3740Trp | |
| XM_011516849.2:c.11143C>T | XP_011515151.1:p.Arg3715Trp | |
| XM_011516850.2:c.10843C>T | XP_011515152.1:p.Arg3615Trp | |
| XM_011516851.2:c.8107C>T | XP_011515153.1:p.Arg2703Trp | |
| XM_011516852.2:c.8107C>T | XP_011515154.1:p.Arg2703Trp | |
| XM_011516854.2:c.7000C>T | XP_011515156.1:p.Arg2334Trp | |
| XM_017013109.1:c.11026C>T | XP_016868598.1:p.Arg3676Trp | |
| XM_017013111.1:c.8107C>T | XP_016868600.1:p.Arg2703Trp | |
| XM_017013112.1:c.6778C>T | XP_016868601.1:p.Arg2260Trp | |
| XM_024447074.1:c.10006C>T | XP_024302842.1:p.Arg3336Trp | |
| NM_017890.5:c.11221C>T MANE Plus Clinical | NP_060360.3:p.Arg3741Trp | |
| NM_152564.5:c.11146C>T MANE Select | NP_689777.3:p.Arg3716Trp |