Linked Data
ClinVar Variation Id:
220611
dbSNP Id:
rs749306433
ExAC:
16:68835695 A / G
gnomAD v2:
16-68835695-A-G
gnomAD v3:
16-68801792-A-G
gnomAD v4:
16-68801792-A-G
PubMed:
PMID:26182300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68801792A>G , CM000678.2:g.68801792A>G | GRCh38 |
| NC_000016.9:g.68835695A>G , CM000678.1:g.68835695A>G | GRCh37 |
| NC_000016.8:g.67393196A>G | NCBI36 |
| NG_008021.1:g.69501A>G , LRG_301:g.69501A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.286A>G MANE Select | ENSP00000261769.4:p.Ile96Val | |
| ENST00000261769.9:c.286A>G | ENSP00000261769.4:p.Ile96Val | |
| ENST00000422392.6:c.286A>G | ENSP00000414946.2:p.Ile96Val | |
| ENST00000561751.1:c.53A>G | ||
| ENST00000562836.5:n.357A>G | ||
| ENST00000564676.5:n.568A>G | ||
| ENST00000564745.1:n.281A>G | ||
| ENST00000566510.5:c.286A>G | ENSP00000458139.1:p.Ile96Val | |
| ENST00000566612.5:c.286A>G | ENSP00000454782.1:p.Ile96Val | |
| ENST00000611625.4:c.286A>G | ENSP00000481063.1:p.Ile96Val | |
| ENST00000612417.4:c.286A>G | ENSP00000478360.1:p.Ile96Val | |
| ENST00000621016.4:c.286A>G | ENSP00000480664.1:p.Ile96Val | |
| NM_004360.3:c.286A>G , LRG_301t1:c.286A>G | NP_004351.1:p.Ile96Val | |
| XM_011523488.1:c.-450A>G | XP_011521790.1:n.-450A>G | |
| XM_011523489.1:c.-450A>G | XP_011521791.1:n.-450A>G | |
| NM_001317184.1:c.286A>G | NP_001304113.1:p.Ile96Val | |
| NM_001317185.1:c.-1330A>G | NP_001304114.1:n.-1330A>G | |
| NM_001317186.1:c.-1534A>G | NP_001304115.1:n.-1534A>G | |
| NM_004360.4:c.286A>G | NP_004351.1:p.Ile96Val | |
| NM_004360.5:c.286A>G MANE Select | NP_004351.1:p.Ile96Val | |
| NM_001317184.2:c.286A>G | NP_001304113.1:p.Ile96Val | |
| NM_001317185.2:c.-1330A>G | NP_001304114.1:n.-1330A>G | |
| NM_001317186.2:c.-1534A>G | NP_001304115.1:n.-1534A>G |