Linked Data
ClinVar Variation Id:
356271
dbSNP Id:
rs4151650
ExAC:
6:31914890 C / T
gnomAD v2:
6-31914890-C-T
gnomAD v3:
6-31947113-C-T
gnomAD v4:
6-31947113-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31947113C>T , CM000668.2:g.31947113C>T | GRCh38 |
| NC_000006.11:g.31914890C>T , CM000668.1:g.31914890C>T | GRCh37 |
| NC_000006.10:g.32022869C>T | NCBI36 |
| NG_008191.1:g.6170C>T , LRG_136:g.6170C>T | |
| NG_011730.1:g.24625C>T , LRG_26:g.24625C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.582C>T | ||
| ENST00000483004.2:c.405C>T | ENSP00000419887.2:p.Tyr135= | |
| ENST00000497841.6:c.405C>T | ENSP00000513847.1:p.Tyr135= | |
| ENST00000698628.1:c.405C>T | ENSP00000513848.1:p.Tyr135= | |
| ENST00000698629.1:n.582C>T | ||
| ENST00000698630.1:n.966C>T | ||
| ENST00000698631.1:n.961C>T | ||
| ENST00000698632.1:n.933C>T | ||
| ENST00000698633.1:n.903C>T | ||
| ENST00000698636.1:n.627C>T | ||
| ENST00000425368.7:c.405C>T MANE Select | ENSP00000416561.2:p.Tyr135= | |
| ENST00000425368.6:c.405C>T | ENSP00000416561.2:p.Tyr135= | |
| ENST00000452035.6:n.405C>T | ||
| ENST00000456570.5:c.1911C>T | ENSP00000410815.1:p.Tyr637= | |
| ENST00000460718.5:c.*31C>T | ENSP00000417793.1:n.*31C>T | |
| ENST00000472581.1:n.1052C>T | ||
| ENST00000475617.5:c.405C>T | ENSP00000420090.1:p.Tyr135= | |
| ENST00000477310.1:c.1458C>T | ENSP00000418996.1:p.Tyr486= | |
| NM_001710.5:c.405C>T , LRG_136t1:c.405C>T | NP_001701.2:p.Tyr135= | |
| NM_001710.6:c.405C>T MANE Select | NP_001701.2:p.Tyr135= |