Linked Data
dbSNP Id:
rs1928118900
gnomAD v4:
22-42623846-T-G
MyVariant Identifiers:
chr22:g.43019852T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42623846T>G , CM000684.2:g.42623846T>G | GRCh38 |
| NC_000022.10:g.43019852T>G , CM000684.1:g.43019852T>G | GRCh37 |
| NC_000022.9:g.41349796T>G | NCBI36 |
| NG_012194.1:g.30554A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361740.9:c.808A>C | ENSP00000354468.5:p.Arg270= | |
| ENST00000402438.6:c.607A>C | ENSP00000385679.1:p.Arg203= | |
| ENST00000407332.6:c.694A>C | ENSP00000384457.2:p.Arg232= | |
| ENST00000407623.8:c.607A>C | ENSP00000384834.3:p.Arg203= | |
| ENST00000617178.5:c.213A>C | ||
| ENST00000684963.1:n.2416A>C | ||
| ENST00000685184.1:n.268A>C | ||
| ENST00000686523.1:c.*625A>C | ENSP00000508940.1:n.*625A>C | |
| ENST00000687183.1:n.952A>C | ||
| ENST00000687198.1:c.607A>C | ENSP00000508492.1:p.Arg203= | |
| ENST00000688117.1:c.775A>C | ENSP00000509015.1:p.Arg259= | |
| ENST00000688244.1:c.376A>C | ENSP00000510355.1:p.Arg126= | |
| ENST00000689001.1:n.1298A>C | ||
| ENST00000689195.1:c.592A>C | ENSP00000509895.1:p.Arg198= | |
| ENST00000689239.1:n.843A>C | ||
| ENST00000689795.1:n.937A>C | ||
| ENST00000690835.1:c.*55A>C | ENSP00000509038.1:n.*55A>C | |
| ENST00000690993.1:n.1431A>C | ||
| ENST00000691295.1:c.*159A>C | ENSP00000508706.1:n.*159A>C | |
| ENST00000691918.1:c.966A>C | ENSP00000509525.1:n.966A>C | |
| ENST00000692152.1:c.607A>C | ENSP00000509317.1:p.Arg203= | |
| ENST00000692344.1:n.1163A>C | ||
| ENST00000693363.1:c.718A>C | ENSP00000510411.1:p.Arg240= | |
| ENST00000693367.1:c.676A>C | ENSP00000508815.1:p.Arg226= | |
| ENST00000693639.1:c.669A>C | ENSP00000510223.1:n.669A>C | |
| ENST00000693646.1:c.582A>C | ENSP00000508449.1:n.582A>C | |
| ENST00000352397.10:c.676A>C MANE Select | ENSP00000338461.6:p.Arg226= | |
| ENST00000352397.9:c.676A>C | ENSP00000338461.6:p.Arg226= | |
| ENST00000361740.8:c.775A>C | ENSP00000354468.4:p.Arg259= | |
| ENST00000402438.5:c.607A>C | ENSP00000385679.1:p.Arg203= | |
| ENST00000407332.5:c.607A>C | ENSP00000384457.1:p.Arg203= | |
| ENST00000407623.7:c.607A>C | ENSP00000384834.3:p.Arg203= | |
| ENST00000470741.1:n.2810A>C | ||
| NM_000398.6:c.676A>C | NP_000389.1:p.Arg226= | |
| NM_001129819.2:c.607A>C | NP_001123291.1:p.Arg203= | |
| NM_001171660.1:c.775A>C | NP_001165131.1:p.Arg259= | |
| NM_001171661.1:c.607A>C | NP_001165132.1:p.Arg203= | |
| NM_007326.4:c.607A>C | NP_015565.1:p.Arg203= | |
| NM_000398.7:c.676A>C MANE Select | NP_000389.1:p.Arg226= | |
| NM_001171660.2:c.775A>C | NP_001165131.1:p.Arg259= |