Linked Data
dbSNP Id:
rs776766571
ExAC:
22:43019798 C / T
gnomAD v2:
22-43019798-C-T
gnomAD v4:
22-42623792-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42623792C>T , CM000684.2:g.42623792C>T | GRCh38 |
| NC_000022.10:g.43019798C>T , CM000684.1:g.43019798C>T | GRCh37 |
| NC_000022.9:g.41349742C>T | NCBI36 |
| NG_012194.1:g.30608G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361740.9:c.862G>A | ENSP00000354468.5:p.Glu288Lys | |
| ENST00000402438.6:c.661G>A | ENSP00000385679.1:p.Glu221Lys | |
| ENST00000407332.6:c.748G>A | ENSP00000384457.2:p.Glu250Lys | |
| ENST00000407623.8:c.661G>A | ENSP00000384834.3:p.Glu221Lys | |
| ENST00000617178.5:c.267G>A | ||
| ENST00000684963.1:n.2470G>A | ||
| ENST00000685184.1:n.322G>A | ||
| ENST00000686523.1:c.*679G>A | ENSP00000508940.1:n.*679G>A | |
| ENST00000687183.1:n.1006G>A | ||
| ENST00000687198.1:c.661G>A | ENSP00000508492.1:p.Glu221Lys | |
| ENST00000688117.1:c.829G>A | ENSP00000509015.1:p.Glu277Lys | |
| ENST00000688244.1:c.430G>A | ENSP00000510355.1:p.Glu144Lys | |
| ENST00000689001.1:n.1352G>A | ||
| ENST00000689195.1:c.646G>A | ENSP00000509895.1:p.Glu216Lys | |
| ENST00000689239.1:n.897G>A | ||
| ENST00000689795.1:n.991G>A | ||
| ENST00000690835.1:c.*109G>A | ENSP00000509038.1:n.*109G>A | |
| ENST00000690993.1:n.1485G>A | ||
| ENST00000691295.1:c.*213G>A | ENSP00000508706.1:n.*213G>A | |
| ENST00000691918.1:c.1020G>A | ENSP00000509525.1:n.1020G>A | |
| ENST00000692152.1:c.661G>A | ENSP00000509317.1:p.Glu221Lys | |
| ENST00000692344.1:n.1217G>A | ||
| ENST00000693363.1:c.772G>A | ENSP00000510411.1:p.Glu258Lys | |
| ENST00000693367.1:c.730G>A | ENSP00000508815.1:p.Glu244Lys | |
| ENST00000693639.1:c.723G>A | ENSP00000510223.1:n.723G>A | |
| ENST00000693646.1:c.636G>A | ENSP00000508449.1:n.636G>A | |
| ENST00000352397.10:c.730G>A MANE Select | ENSP00000338461.6:p.Glu244Lys | |
| ENST00000352397.9:c.730G>A | ENSP00000338461.6:p.Glu244Lys | |
| ENST00000361740.8:c.829G>A | ENSP00000354468.4:p.Glu277Lys | |
| ENST00000402438.5:c.661G>A | ENSP00000385679.1:p.Glu221Lys | |
| ENST00000407332.5:c.661G>A | ENSP00000384457.1:p.Glu221Lys | |
| ENST00000407623.7:c.661G>A | ENSP00000384834.3:p.Glu221Lys | |
| ENST00000470741.1:n.2864G>A | ||
| NM_000398.6:c.730G>A | NP_000389.1:p.Glu244Lys | |
| NM_001129819.2:c.661G>A | NP_001123291.1:p.Glu221Lys | |
| NM_001171660.1:c.829G>A | NP_001165131.1:p.Glu277Lys | |
| NM_001171661.1:c.661G>A | NP_001165132.1:p.Glu221Lys | |
| NM_007326.4:c.661G>A | NP_015565.1:p.Glu221Lys | |
| NM_000398.7:c.730G>A MANE Select | NP_000389.1:p.Glu244Lys | |
| NM_001171660.2:c.829G>A | NP_001165131.1:p.Glu277Lys |