COSMIC:
COSM428436 (not active)
Revel Score:
ENST00000303941 (MANE Select)
0.023
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69321883 (NFE)
Genomes Max Group AF
0.68201389 (NFE)
Exomes Max Group AF
0.69362577 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113399293G>C , CM000673.2:g.113399293G>C | GRCh38 |
| NC_000011.9:g.113270015G>C , CM000673.1:g.113270015G>C | GRCh37 |
| NC_000011.8:g.112775225G>C | NCBI36 |
| NG_012976.1:g.16503G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303941.4:c.1324G>C MANE Select | ENSP00000306678.3:p.Gly442Arg | |
| ENST00000303941.3:c.1324G>C | ENSP00000306678.3:p.Gly442Arg | |
| NM_178510.1:c.1324G>C | NP_848605.1:p.Gly442Arg | |
| XM_011542736.1:c.1357G>C | XP_011541038.1:p.Gly453Arg | |
| XM_011542737.1:c.1327G>C | XP_011541039.1:p.Gly443Arg | |
| XM_011542738.1:c.1135G>C | XP_011541040.1:p.Gly379Arg | |
| XM_011542736.2:c.1357G>C | XP_011541038.1:p.Gly453Arg | |
| XM_011542737.2:c.1327G>C | XP_011541039.1:p.Gly443Arg | |
| XM_011542738.2:c.1135G>C | XP_011541040.1:p.Gly379Arg | |
| XM_017017475.1:c.1354G>C | XP_016872964.1:p.Gly452Arg | |
| NM_178510.2:c.1324G>C MANE Select | NP_848605.1:p.Gly442Arg |