MyVariant.info:
GRCh37
chr8:g.38003554G>T
gnomAD v4:
Joint Max Group AF
0.00002977 (EAS)
Exomes Max Group AF
0.00003348 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146036G>T , CM000670.2:g.38146036G>T | GRCh38 |
| NC_000008.10:g.38003554G>T , CM000670.1:g.38003554G>T | GRCh37 |
| NC_000008.9:g.38122711G>T | NCBI36 |
| NG_011827.1:g.10047C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.577C>A MANE Select | ENSP00000276449.3:p.Arg193= | |
| ENST00000276449.8:c.577C>A | ENSP00000276449.3:p.Arg193= | |
| ENST00000520114.1:n.1064C>A | ||
| ENST00000522050.1:c.513C>A | ||
| NM_000349.2:c.577C>A | NP_000340.2:p.Arg193= | |
| XM_006716392.1:c.577C>A | XP_006716455.1:p.Arg193= | |
| NM_000349.3:c.577C>A MANE Select | NP_000340.2:p.Arg193= |