Linked Data
dbSNP Id:
rs577265778
ExAC:
22:43026894 G / A
gnomAD v2:
22-43026894-G-A
gnomAD v3:
22-42630888-G-A
gnomAD v4:
22-42630888-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42630888G>A , CM000684.2:g.42630888G>A | GRCh38 |
| NC_000022.10:g.43026894G>A , CM000684.1:g.43026894G>A | GRCh37 |
| NC_000022.9:g.41356838G>A | NCBI36 |
| NG_012194.1:g.23512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361740.9:c.327C>T | ENSP00000354468.5:p.Val109= | |
| ENST00000402438.6:c.258C>T | ENSP00000385679.1:p.Val86= | |
| ENST00000407332.6:c.345C>T | ENSP00000384457.2:p.Val115= | |
| ENST00000407623.8:c.258C>T | ENSP00000384834.3:p.Val86= | |
| ENST00000438270.2:c.258C>T | ENSP00000403439.2:p.Val86= | |
| ENST00000466276.2:n.394C>T | ||
| ENST00000686129.1:c.258C>T | ENSP00000508623.1:p.Val86= | |
| ENST00000686523.1:c.*276C>T | ENSP00000508940.1:n.*276C>T | |
| ENST00000687183.1:n.388C>T | ||
| ENST00000687198.1:c.258C>T | ENSP00000508492.1:p.Val86= | |
| ENST00000688117.1:c.426C>T | ENSP00000509015.1:p.Val142= | |
| ENST00000688244.1:c.327C>T | ENSP00000510355.1:p.Val109= | |
| ENST00000689001.1:n.734C>T | ||
| ENST00000689195.1:c.327C>T | ENSP00000509895.1:p.Val109= | |
| ENST00000689239.1:n.494C>T | ||
| ENST00000689795.1:n.489C>T | ||
| ENST00000690835.1:c.327C>T | ENSP00000509038.1:p.Val109= | |
| ENST00000690993.1:n.404C>T | ||
| ENST00000691295.1:c.327C>T | ENSP00000508706.1:p.Val109= | |
| ENST00000691918.1:c.306C>T | ENSP00000509525.1:p.Val102= | |
| ENST00000692152.1:c.258C>T | ENSP00000509317.1:p.Val86= | |
| ENST00000692344.1:n.351C>T | ||
| ENST00000693157.1:c.247C>T | ENSP00000510610.1:n.247C>T | |
| ENST00000693363.1:c.327C>T | ENSP00000510411.1:p.Val109= | |
| ENST00000693367.1:c.327C>T | ENSP00000508815.1:p.Val109= | |
| ENST00000693639.1:c.320C>T | ENSP00000510223.1:p.Ser107Leu | |
| ENST00000693646.1:c.233C>T | ENSP00000508449.1:p.Ser78Leu | |
| ENST00000352397.10:c.327C>T MANE Select | ENSP00000338461.6:p.Val109= | |
| ENST00000352397.9:c.327C>T | ENSP00000338461.6:p.Val109= | |
| ENST00000361740.8:c.426C>T | ENSP00000354468.4:p.Val142= | |
| ENST00000402438.5:c.258C>T | ENSP00000385679.1:p.Val86= | |
| ENST00000407332.5:c.258C>T | ENSP00000384457.1:p.Val86= | |
| ENST00000407623.7:c.258C>T | ENSP00000384834.3:p.Val86= | |
| ENST00000438270.1:c.258C>T | ENSP00000403439.1:p.Val86= | |
| ENST00000470741.1:n.2461C>T | ||
| NM_000398.6:c.327C>T | NP_000389.1:p.Val109= | |
| NM_001129819.2:c.258C>T | NP_001123291.1:p.Val86= | |
| NM_001171660.1:c.426C>T | NP_001165131.1:p.Val142= | |
| NM_001171661.1:c.258C>T | NP_001165132.1:p.Val86= | |
| NM_007326.4:c.258C>T | NP_015565.1:p.Val86= | |
| NM_000398.7:c.327C>T MANE Select | NP_000389.1:p.Val109= | |
| NM_001171660.2:c.426C>T | NP_001165131.1:p.Val142= |