COSMIC:
COSM4145815 (not active)
Revel Score:
ENST00000270115 (MANE Select)
0.015
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88503341 (EAS)
Genomes Max Group AF
0.85091678 (EAS)
Exomes Max Group AF
0.88718969 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.554166C>G , CM000673.2:g.554166C>G | GRCh38 |
| NC_000011.9:g.554166C>G , CM000673.1:g.554166C>G | GRCh37 |
| NC_000011.8:g.544166C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270115.8:c.1519C>G MANE Select | ENSP00000270115.7:p.Arg507Gly | |
| ENST00000270115.7:c.1519C>G | ENSP00000270115.7:p.Arg507Gly | |
| NM_198075.3:c.1519C>G | NP_932341.1:p.Arg507Gly | |
| XM_005252775.2:c.1519C>G | XP_005252832.1:p.Arg507Gly | |
| XM_005252776.2:c.1342C>G | XP_005252833.1:p.Arg448Gly | |
| XM_006718132.2:c.1519C>G | XP_006718195.1:p.Arg507Gly | |
| XM_006718133.2:c.1519C>G | XP_006718196.1:p.Arg507Gly | |
| XM_006718135.2:c.*21C>G | XP_006718198.1:n.*21C>G | |
| XM_011519875.1:c.1519C>G | XP_011518177.1:p.Arg507Gly | |
| XM_011519876.1:c.1519C>G | XP_011518178.1:p.Arg507Gly | |
| XM_011519877.1:c.1519C>G | XP_011518179.1:p.Arg507Gly | |
| XM_011519875.2:c.1519C>G | XP_011518177.1:p.Arg507Gly | |
| XM_011519877.2:c.1519C>G | XP_011518179.1:p.Arg507Gly | |
| XM_017017167.1:c.1519C>G | XP_016872656.1:p.Arg507Gly | |
| XM_017017168.1:c.1519C>G | XP_016872657.1:p.Arg507Gly | |
| NM_198075.4:c.1519C>G MANE Select | NP_932341.1:p.Arg507Gly |