Linked Data
ClinVar Variation Id:
458677
dbSNP Id:
rs148081697
ExAC:
11:71146831 C / T
gnomAD v2:
11-71146831-C-T
gnomAD v3:
11-71435785-C-T
gnomAD v4:
11-71435785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71435785C>T , CM000673.2:g.71435785C>T | GRCh38 |
| NC_000011.9:g.71146831C>T , CM000673.1:g.71146831C>T | GRCh37 |
| NC_000011.8:g.70824479C>T | NCBI36 |
| NG_012655.2:g.17647G>A , LRG_340:g.17647G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.1018G>A | ENSP00000435707.3:p.Val340Ile | |
| ENST00000526780.6:c.1018G>A | ENSP00000435668.2:p.Val340Ile | |
| ENST00000527316.6:c.844G>A | ENSP00000435047.2:p.Val282Ile | |
| ENST00000682708.1:c.1069G>A | ENSP00000506866.1:p.Val357Ile | |
| ENST00000683287.1:c.1054G>A | ENSP00000507607.1:p.Val352Ile | |
| ENST00000683714.1:c.1026G>A | ENSP00000508207.1:p.Ala342= | |
| ENST00000684396.1:n.1058G>A | ||
| ENST00000685320.1:c.433G>A | ENSP00000509319.1:p.Val145Ile | |
| ENST00000690257.1:c.922G>A | ENSP00000510750.1:p.Val308Ile | |
| ENST00000355527.8:c.1018G>A MANE Select | ENSP00000347717.4:p.Val340Ile | |
| ENST00000355527.7:c.1018G>A | ENSP00000347717.3:p.Val340Ile | |
| ENST00000407721.6:c.1018G>A | ENSP00000384739.2:p.Val340Ile | |
| ENST00000525137.1:c.519G>A | ENSP00000435956.1:p.Ala173= | |
| ENST00000533800.5:c.268G>A | ENSP00000435011.1:p.Val90Ile | |
| ENST00000534795.5:c.319+2027G>A | ||
| NM_001163817.1:c.1018G>A | NP_001157289.1:p.Val340Ile | |
| NM_001360.2:c.1018G>A , LRG_340t1:c.1018G>A | NP_001351.2:p.Val340Ile | |
| XM_011544777.1:c.1152G>A | XP_011543079.1:p.Ala384= | |
| XM_011544777.2:c.1152G>A | XP_011543079.1:p.Ala384= | |
| NM_001163817.2:c.1018G>A | NP_001157289.1:p.Val340Ile | |
| NM_001360.3:c.1018G>A MANE Select | NP_001351.2:p.Val340Ile |