dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002081 (NFE)
Exomes Max Group AF
0.00002124 (NFE)
Revel Score:
ENST00000225927 (MANE Select)
0.646
ENST00000377405
0.646
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543882C>G , CM000679.2:g.42543882C>G | GRCh38 |
| NC_000017.10:g.40695900C>G , CM000679.1:g.40695900C>G | GRCh37 |
| NC_000017.9:g.37949426C>G | NCBI36 |
| NG_011552.1:g.12950C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1876C>G MANE Select | ENSP00000225927.1:p.Arg626Gly | |
| ENST00000225927.6:c.1876C>G | ENSP00000225927.1:p.Arg626Gly | |
| ENST00000591587.1:c.1214C>G | ENSP00000467836.1:n.1214C>G | |
| NM_000263.3:c.1876C>G | NP_000254.2:p.Arg626Gly | |
| XM_006721920.2:c.1045C>G | XP_006721983.1:p.Arg349Gly | |
| XM_011524840.1:c.877C>G | XP_011523142.1:p.Arg293Gly | |
| XM_017024687.1:c.1045C>G | XP_016880176.1:p.Arg349Gly | |
| XM_024450771.1:c.1933C>G | XP_024306539.1:p.Arg645Gly | |
| XM_024450772.1:c.877C>G | XP_024306540.1:p.Arg293Gly | |
| NM_000263.4:c.1876C>G MANE Select | NP_000254.2:p.Arg626Gly |