Linked Data
ClinVar Variation Id:
189168
ClinVar RCV Id:
RCV000169596
dbSNP Id:
rs750345068
ExAC:
11:71155249 C / T
gnomAD v2:
11-71155249-C-T
gnomAD v3:
11-71444203-C-T
gnomAD v4:
11-71444203-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71444203C>T , CM000673.2:g.71444203C>T | GRCh38 |
| NC_000011.9:g.71155249C>T , CM000673.1:g.71155249C>T | GRCh37 |
| NC_000011.8:g.70832897C>T | NCBI36 |
| NG_012655.2:g.9229G>A , LRG_340:g.9229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.111G>A | ENSP00000435707.3:p.Trp37Ter | |
| ENST00000526780.6:c.111G>A | ENSP00000435668.2:p.Trp37Ter | |
| ENST00000527316.6:c.-64G>A | ENSP00000435047.2:n.-64G>A | |
| ENST00000529990.6:c.-64G>A | ENSP00000435058.2:n.-64G>A | |
| ENST00000682708.1:c.111G>A | ENSP00000506866.1:p.Trp37Ter | |
| ENST00000682880.1:c.111G>A | ENSP00000507520.1:p.Trp37Ter | |
| ENST00000683287.1:c.111G>A | ENSP00000507607.1:p.Trp37Ter | |
| ENST00000683714.1:c.111G>A | ENSP00000508207.1:p.Trp37Ter | |
| ENST00000683874.1:n.388G>A | ||
| ENST00000685320.1:c.-333-142G>A | ENSP00000509319.1:n.-333-142G>A | |
| ENST00000690257.1:c.99-84G>A | ENSP00000510750.1:n.99-84G>A | |
| ENST00000355527.8:c.111G>A MANE Select | ENSP00000347717.4:p.Trp37Ter | |
| ENST00000355527.7:c.111G>A | ENSP00000347717.3:p.Trp37Ter | |
| ENST00000407721.6:c.111G>A | ENSP00000384739.2:p.Trp37Ter | |
| ENST00000525346.5:c.111G>A | ENSP00000435707.2:p.Trp37Ter | |
| ENST00000526780.5:c.111G>A | ENSP00000435668.1:p.Trp37Ter | |
| ENST00000527316.5:c.99-84G>A | ENSP00000435047.1:n.99-84G>A | |
| ENST00000527452.1:c.111G>A | ENSP00000436007.1:p.Trp37Ter | |
| ENST00000529990.5:c.51G>A | ENSP00000435058.1:p.Trp17Ter | |
| ENST00000531364.5:c.111G>A | ENSP00000432589.1:p.Trp37Ter | |
| NM_001163817.1:c.111G>A | NP_001157289.1:p.Trp37Ter | |
| NM_001360.2:c.111G>A , LRG_340t1:c.111G>A | NP_001351.2:p.Trp37Ter | |
| XM_011544777.1:c.111G>A | XP_011543079.1:p.Trp37Ter | |
| XM_011544777.2:c.111G>A | XP_011543079.1:p.Trp37Ter | |
| NM_001163817.2:c.111G>A | NP_001157289.1:p.Trp37Ter | |
| NM_001360.3:c.111G>A MANE Select | NP_001351.2:p.Trp37Ter |