Linked Data
dbSNP Id:
rs771362652
ExAC:
3:191074883 G / A
gnomAD v2:
3-191074883-G-A
gnomAD v4:
3-191357094-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191357094G>A , CM000665.2:g.191357094G>A | GRCh38 |
| NC_000003.11:g.191074883G>A , CM000665.1:g.191074883G>A | GRCh37 |
| NC_000003.10:g.192557577G>A | NCBI36 |
| NG_008994.1:g.33010G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.56G>A MANE Select | ENSP00000376249.4:p.Arg19Gln | |
| ENST00000392456.4:c.56G>A | ENSP00000376250.4:p.Arg19Gln | |
| ENST00000392455.7:c.56G>A | ENSP00000376249.3:p.Arg19Gln | |
| ENST00000392456.3:c.56G>A | ENSP00000376250.3:p.Arg19Gln | |
| NM_174908.3:c.56G>A | NP_777568.1:p.Arg19Gln | |
| NM_178335.2:c.56G>A | NP_848018.1:p.Arg19Gln | |
| XM_011512460.1:c.56G>A | XP_011510762.1:p.Arg19Gln | |
| NM_178335.3:c.56G>A MANE Select | NP_848018.1:p.Arg19Gln | |
| NM_174908.4:c.56G>A | NP_777568.1:p.Arg19Gln |