Linked Data
dbSNP Id:
rs778910041
ExAC:
22:38129326 C / A
gnomAD v2:
22-38129326-C-A
gnomAD v4:
22-37733319-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37733319C>A , CM000684.2:g.37733319C>A | GRCh38 |
| NC_000022.10:g.38129326C>A , CM000684.1:g.38129326C>A | GRCh37 |
| NC_000022.9:g.36459272C>A | NCBI36 |
| NG_012857.1:g.41332C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.3969C>A MANE Select | ENSP00000496394.1:p.Ala1323= | |
| ENST00000344404.10:c.*3452C>A | ENSP00000340312.6:n.*3452C>A | |
| ENST00000406386.7:c.3969C>A | ENSP00000384312.3:p.Ala1323= | |
| NM_001039141.2:c.3969C>A | NP_001034230.1:p.Ala1323= | |
| XM_011530646.1:c.512-2960G>T | XP_011528948.1:n.512-2960G>T | |
| NM_001039141.3:c.3969C>A MANE Select | NP_001034230.1:p.Ala1323= |