Linked Data
ClinVar Variation Id:
287363
dbSNP Id:
rs145284180
ExAC:
11:71150027 G / A
gnomAD v2:
11-71150027-G-A
gnomAD v3:
11-71438981-G-A
gnomAD v4:
11-71438981-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71438981G>A , CM000673.2:g.71438981G>A | GRCh38 |
| NC_000011.9:g.71150027G>A , CM000673.1:g.71150027G>A | GRCh37 |
| NC_000011.8:g.70827675G>A | NCBI36 |
| NG_012655.2:g.14451C>T , LRG_340:g.14451C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.729C>T | ENSP00000435707.3:p.Pro243= | |
| ENST00000526780.6:c.729C>T | ENSP00000435668.2:p.Pro243= | |
| ENST00000527316.6:c.555C>T | ENSP00000435047.2:p.Pro185= | |
| ENST00000682708.1:c.780C>T | ENSP00000506866.1:p.Pro260= | |
| ENST00000682880.1:c.729C>T | ENSP00000507520.1:p.Pro243= | |
| ENST00000683287.1:c.765C>T | ENSP00000507607.1:p.Pro255= | |
| ENST00000683714.1:c.729C>T | ENSP00000508207.1:p.Pro243= | |
| ENST00000684396.1:n.769C>T | ||
| ENST00000685320.1:c.144C>T | ENSP00000509319.1:p.Pro48= | |
| ENST00000690257.1:c.633C>T | ENSP00000510750.1:p.Pro211= | |
| ENST00000355527.8:c.729C>T MANE Select | ENSP00000347717.4:p.Pro243= | |
| ENST00000355527.7:c.729C>T | ENSP00000347717.3:p.Pro243= | |
| ENST00000407721.6:c.729C>T | ENSP00000384739.2:p.Pro243= | |
| ENST00000525137.1:c.96C>T | ENSP00000435956.1:p.Pro32= | |
| ENST00000527316.5:c.633C>T | ENSP00000435047.1:p.Pro211= | |
| ENST00000534701.1:n.224C>T | ||
| ENST00000534795.5:c.85C>T | ||
| NM_001163817.1:c.729C>T | NP_001157289.1:p.Pro243= | |
| NM_001360.2:c.729C>T , LRG_340t1:c.729C>T | NP_001351.2:p.Pro243= | |
| XM_011544777.1:c.729C>T | XP_011543079.1:p.Pro243= | |
| XM_011544777.2:c.729C>T | XP_011543079.1:p.Pro243= | |
| NM_001163817.2:c.729C>T | NP_001157289.1:p.Pro243= | |
| NM_001360.3:c.729C>T MANE Select | NP_001351.2:p.Pro243= |