MyVariant.info:
GRCh38
chr8:g.144415027G>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05186711 (NFE)
Genomes Max Group AF
0.04977083 (NFE)
Exomes Max Group AF
0.05191918 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144415027G>A , CM000670.2:g.144415027G>A | GRCh38 |
| NG_012234.2:g.6864C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.751C>T MANE Select | ENSP00000301305.4:p.Arg251Trp | |
| ENST00000276833.9:c.676C>T | ENSP00000276833.5:p.Arg226Trp | |
| ENST00000301305.7:c.751C>T | ENSP00000301305.3:p.Arg251Trp | |
| ENST00000526658.1:c.469C>T | ENSP00000434512.1:p.Arg157Trp | |
| NM_017767.2:c.676C>T | NP_060237.2:p.Arg226Trp | |
| NM_130849.3:c.751C>T | NP_570901.2:p.Arg251Trp | |
| XM_006716599.1:c.751C>T | XP_006716662.1:p.Arg251Trp | |
| XM_011517153.1:c.469C>T | XP_011515455.1:p.Arg157Trp | |
| XM_024447188.1:c.469C>T | XP_024302956.1:p.Arg157Trp | |
| XM_024447189.1:c.469C>T | XP_024302957.1:p.Arg157Trp | |
| NM_001374839.1:c.469C>T | NP_001361768.1:p.Arg157Trp | |
| NM_017767.3:c.676C>T | NP_060237.3:p.Arg226Trp | |
| NM_130849.4:c.751C>T MANE Select | NP_570901.3:p.Arg251Trp |