Linked Data
ClinVar Variation Id:
197725
dbSNP Id:
rs143587828
ExAC:
11:71153345 C / T
gnomAD v2:
11-71153345-C-T
gnomAD v3:
11-71442299-C-T
gnomAD v4:
11-71442299-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71442299C>T , CM000673.2:g.71442299C>T | GRCh38 |
| NC_000011.9:g.71153345C>T , CM000673.1:g.71153345C>T | GRCh37 |
| NC_000011.8:g.70830993C>T | NCBI36 |
| NG_012655.2:g.11133G>A , LRG_340:g.11133G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.376G>A | ENSP00000435707.3:p.Val126Ile | |
| ENST00000526780.6:c.376G>A | ENSP00000435668.2:p.Val126Ile | |
| ENST00000527316.6:c.202G>A | ENSP00000435047.2:p.Val68Ile | |
| ENST00000682708.1:c.376G>A | ENSP00000506866.1:p.Val126Ile | |
| ENST00000682880.1:c.376G>A | ENSP00000507520.1:p.Val126Ile | |
| ENST00000683287.1:c.412G>A | ENSP00000507607.1:p.Val138Ile | |
| ENST00000683714.1:c.376G>A | ENSP00000508207.1:p.Val126Ile | |
| ENST00000683874.1:n.653G>A | ||
| ENST00000685320.1:c.-210G>A | ENSP00000509319.1:n.-210G>A | |
| ENST00000690257.1:c.280G>A | ENSP00000510750.1:p.Val94Ile | |
| ENST00000355527.8:c.376G>A MANE Select | ENSP00000347717.4:p.Val126Ile | |
| ENST00000355527.7:c.376G>A | ENSP00000347717.3:p.Val126Ile | |
| ENST00000407721.6:c.376G>A | ENSP00000384739.2:p.Val126Ile | |
| ENST00000526780.5:c.376G>A | ENSP00000435668.1:p.Val126Ile | |
| ENST00000527316.5:c.280G>A | ENSP00000435047.1:p.Val94Ile | |
| NM_001163817.1:c.376G>A | NP_001157289.1:p.Val126Ile | |
| NM_001360.2:c.376G>A , LRG_340t1:c.376G>A | NP_001351.2:p.Val126Ile | |
| XM_011544777.1:c.376G>A | XP_011543079.1:p.Val126Ile | |
| XM_011544777.2:c.376G>A | XP_011543079.1:p.Val126Ile | |
| NM_001163817.2:c.376G>A | NP_001157289.1:p.Val126Ile | |
| NM_001360.3:c.376G>A MANE Select | NP_001351.2:p.Val126Ile |