Linked Data
ClinVar Variation Id:
2071978
ClinVar RCV Id:
RCV002949447
dbSNP Id:
rs752010614
ExAC:
11:71148986 T / C
gnomAD v2:
11-71148986-T-C
gnomAD v3:
11-71437940-T-C
gnomAD v4:
11-71437940-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71437940T>C , CM000673.2:g.71437940T>C | GRCh38 |
| NC_000011.9:g.71148986T>C , CM000673.1:g.71148986T>C | GRCh37 |
| NC_000011.8:g.70826634T>C | NCBI36 |
| NG_012655.2:g.15492A>G , LRG_340:g.15492A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.835A>G | ENSP00000435707.3:p.Ile279Val | |
| ENST00000526780.6:c.835A>G | ENSP00000435668.2:p.Ile279Val | |
| ENST00000527316.6:c.661A>G | ENSP00000435047.2:p.Ile221Val | |
| ENST00000682708.1:c.886A>G | ENSP00000506866.1:p.Ile296Val | |
| ENST00000682880.1:c.835A>G | ENSP00000507520.1:p.Ile279Val | |
| ENST00000683287.1:c.871A>G | ENSP00000507607.1:p.Ile291Val | |
| ENST00000683714.1:c.835A>G | ENSP00000508207.1:p.Ile279Val | |
| ENST00000684396.1:n.875A>G | ||
| ENST00000685320.1:c.250A>G | ENSP00000509319.1:p.Ile84Val | |
| ENST00000690257.1:c.739A>G | ENSP00000510750.1:p.Ile247Val | |
| ENST00000355527.8:c.835A>G MANE Select | ENSP00000347717.4:p.Ile279Val | |
| ENST00000355527.7:c.835A>G | ENSP00000347717.3:p.Ile279Val | |
| ENST00000407721.6:c.835A>G | ENSP00000384739.2:p.Ile279Val | |
| ENST00000525137.1:c.202A>G | ENSP00000435956.1:p.Ile68Val | |
| ENST00000527316.5:c.739A>G | ENSP00000435047.1:p.Ile247Val | |
| ENST00000533800.5:c.85A>G | ENSP00000435011.1:p.Ile29Val | |
| ENST00000534795.5:c.191A>G | ||
| NM_001163817.1:c.835A>G | NP_001157289.1:p.Ile279Val | |
| NM_001360.2:c.835A>G , LRG_340t1:c.835A>G | NP_001351.2:p.Ile279Val | |
| XM_011544777.1:c.835A>G | XP_011543079.1:p.Ile279Val | |
| XM_011544777.2:c.835A>G | XP_011543079.1:p.Ile279Val | |
| NM_001163817.2:c.835A>G | NP_001157289.1:p.Ile279Val | |
| NM_001360.3:c.835A>G MANE Select | NP_001351.2:p.Ile279Val |