Linked Data
dbSNP Id:
rs2083283578
gnomAD v3:
22-50721178-A-C
gnomAD v4:
22-50721178-A-C
MyVariant Identifiers:
chr22:g.51159606A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50721178A>C , CM000684.2:g.50721178A>C | GRCh38 |
| NC_000022.10:g.51159606A>C , CM000684.1:g.51159606A>C | GRCh37 |
| NC_000022.9:g.49506472A>C | NCBI36 |
| NG_008607.2:g.51824A>C | |
| NG_070230.1:g.56962A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262795.7:c.2946A>C | ENSP00000489147.2:p.Arg982= | |
| ENST00000414786.7:n.3530A>C | ||
| ENST00000445220.7:c.1998A>C | ENSP00000489407.2:p.Arg666= | |
| ENST00000664402.2:c.1488A>C | ENSP00000499475.1:p.Arg496= | |
| ENST00000673971.2:c.*1944A>C | ENSP00000501192.1:n.*1944A>C | |
| ENST00000445220.6:c.1998A>C | ENSP00000489407.2:p.Arg666= | |
| ENST00000262795.6:c.2946A>C | ENSP00000489147.2:p.Arg982= | |
| ENST00000664402.1:c.1488A>C | ENSP00000499475.1:p.Arg496= | |
| ENST00000673971.1:c.*1944A>C | ENSP00000501192.1:n.*1944A>C | |
| ENST00000262795.5:c.3342A>C | ENSP00000489147.1:p.Arg1114= | |
| ENST00000414786.6:n.3530A>C | ||
| ENST00000445220.5:c.3324A>C | ENSP00000489407.1:p.Arg1108= |