Linked Data
ClinVar Variation Id:
289153
dbSNP Id:
rs149974099
ExAC:
11:71148894 G / T
gnomAD v2:
11-71148894-G-T
gnomAD v3:
11-71437848-G-T
gnomAD v4:
11-71437848-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71437848G>T , CM000673.2:g.71437848G>T | GRCh38 |
| NC_000011.9:g.71148894G>T , CM000673.1:g.71148894G>T | GRCh37 |
| NC_000011.8:g.70826542G>T | NCBI36 |
| NG_012655.2:g.15584C>A , LRG_340:g.15584C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.927C>A | ENSP00000435707.3:p.Gly309= | |
| ENST00000526780.6:c.927C>A | ENSP00000435668.2:p.Gly309= | |
| ENST00000527316.6:c.753C>A | ENSP00000435047.2:p.Gly251= | |
| ENST00000682708.1:c.978C>A | ENSP00000506866.1:p.Gly326= | |
| ENST00000682880.1:c.927C>A | ENSP00000507520.1:p.Gly309= | |
| ENST00000683287.1:c.963C>A | ENSP00000507607.1:p.Gly321= | |
| ENST00000683714.1:c.927C>A | ENSP00000508207.1:p.Gly309= | |
| ENST00000684396.1:n.967C>A | ||
| ENST00000685320.1:c.342C>A | ENSP00000509319.1:p.Gly114= | |
| ENST00000690257.1:c.831C>A | ENSP00000510750.1:p.Gly277= | |
| ENST00000355527.8:c.927C>A MANE Select | ENSP00000347717.4:p.Gly309= | |
| ENST00000355527.7:c.927C>A | ENSP00000347717.3:p.Gly309= | |
| ENST00000407721.6:c.927C>A | ENSP00000384739.2:p.Gly309= | |
| ENST00000525137.1:c.294C>A | ENSP00000435956.1:p.Gly98= | |
| ENST00000533800.5:c.177C>A | ENSP00000435011.1:p.Gly59= | |
| ENST00000534795.5:c.283C>A | ||
| NM_001163817.1:c.927C>A | NP_001157289.1:p.Gly309= | |
| NM_001360.2:c.927C>A , LRG_340t1:c.927C>A | NP_001351.2:p.Gly309= | |
| XM_011544777.1:c.927C>A | XP_011543079.1:p.Gly309= | |
| XM_011544777.2:c.927C>A | XP_011543079.1:p.Gly309= | |
| NM_001163817.2:c.927C>A | NP_001157289.1:p.Gly309= | |
| NM_001360.3:c.927C>A MANE Select | NP_001351.2:p.Gly309= |