Linked Data
dbSNP Id:
rs758042093
ExAC:
22:43024121 G / A
gnomAD v2:
22-43024121-G-A
gnomAD v4:
22-42628115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42628115G>A , CM000684.2:g.42628115G>A | GRCh38 |
| NC_000022.10:g.43024121G>A , CM000684.1:g.43024121G>A | GRCh37 |
| NC_000022.9:g.41354065G>A | NCBI36 |
| NG_012194.1:g.26285C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361740.9:c.463+37C>T | ENSP00000354468.5:n.463+37C>T | |
| ENST00000402438.6:c.394+37C>T | ENSP00000385679.1:n.394+37C>T | |
| ENST00000407332.6:c.481+37C>T | ENSP00000384457.2:n.481+37C>T | |
| ENST00000407623.8:c.394+37C>T | ENSP00000384834.3:n.394+37C>T | |
| ENST00000438270.2:c.394+37C>T | ENSP00000403439.2:n.394+37C>T | |
| ENST00000684963.1:n.1777C>T | ||
| ENST00000686523.1:c.*412+37C>T | ENSP00000508940.1:n.*412+37C>T | |
| ENST00000687183.1:n.524+37C>T | ||
| ENST00000687198.1:c.394+37C>T | ENSP00000508492.1:n.394+37C>T | |
| ENST00000688117.1:c.562+37C>T | ENSP00000509015.1:n.562+37C>T | |
| ENST00000688244.1:c.333+2767C>T | ENSP00000510355.1:n.333+2767C>T | |
| ENST00000689001.1:n.870+37C>T | ||
| ENST00000689195.1:c.463+37C>T | ENSP00000509895.1:n.463+37C>T | |
| ENST00000689239.1:n.630+37C>T | ||
| ENST00000689795.1:n.625+37C>T | ||
| ENST00000690835.1:c.463+37C>T | ENSP00000509038.1:n.463+37C>T | |
| ENST00000690993.1:n.577C>T | ||
| ENST00000691295.1:c.334-427C>T | ENSP00000508706.1:n.334-427C>T | |
| ENST00000691918.1:c.442+37C>T | ENSP00000509525.1:n.442+37C>T | |
| ENST00000692152.1:c.394+37C>T | ENSP00000509317.1:n.394+37C>T | |
| ENST00000692344.1:n.524C>T | ||
| ENST00000693363.1:c.463+37C>T | ENSP00000510411.1:n.463+37C>T | |
| ENST00000693367.1:c.463+37C>T | ENSP00000508815.1:n.463+37C>T | |
| ENST00000693639.1:c.456+37C>T | ENSP00000510223.1:n.456+37C>T | |
| ENST00000693646.1:c.369+37C>T | ENSP00000508449.1:n.369+37C>T | |
| ENST00000352397.10:c.463+37C>T MANE Select | ENSP00000338461.6:n.463+37C>T | |
| ENST00000352397.9:c.463+37C>T | ENSP00000338461.6:n.463+37C>T | |
| ENST00000361740.8:c.562+37C>T | ENSP00000354468.4:n.562+37C>T | |
| ENST00000402438.5:c.394+37C>T | ENSP00000385679.1:n.394+37C>T | |
| ENST00000407332.5:c.394+37C>T | ENSP00000384457.1:n.394+37C>T | |
| ENST00000407623.7:c.394+37C>T | ENSP00000384834.3:n.394+37C>T | |
| ENST00000438270.1:c.394+37C>T | ENSP00000403439.1:n.394+37C>T | |
| ENST00000470741.1:n.2597+37C>T | ||
| NM_000398.6:c.463+37C>T | NP_000389.1:n.463+37C>T | |
| NM_001129819.2:c.394+37C>T | NP_001123291.1:n.394+37C>T | |
| NM_001171660.1:c.562+37C>T | NP_001165131.1:n.562+37C>T | |
| NM_001171661.1:c.394+37C>T | NP_001165132.1:n.394+37C>T | |
| NM_007326.4:c.394+37C>T | NP_015565.1:n.394+37C>T | |
| NM_000398.7:c.463+37C>T MANE Select | NP_000389.1:n.463+37C>T | |
| NM_001171660.2:c.562+37C>T | NP_001165131.1:n.562+37C>T |