COSMIC:
COSM3758092 (not active)
Revel Score:
ENST00000254657 (MANE Select)
0.099
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32531065 (AMR)
Genomes Max Group AF
0.25672958 (EAS)
Exomes Max Group AF
0.34922473 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238246412C>T , CM000664.2:g.238246412C>T | GRCh38 |
| NC_000002.11:g.239155053C>T , CM000664.1:g.239155053C>T | GRCh37 |
| NC_000002.10:g.238819792C>T | NCBI36 |
| NG_012146.1:g.47155G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707129.1:c.3731G>A | ENSP00000516757.1:p.Gly1244Glu | |
| ENST00000707130.1:c.3731G>A | ENSP00000516758.1:p.Gly1244Glu | |
| ENST00000254657.8:c.3731G>A MANE Select | ENSP00000254657.3:p.Gly1244Glu | |
| ENST00000254657.7:c.3731G>A | ENSP00000254657.3:p.Gly1244Glu | |
| NM_022817.2:c.3731G>A | NP_073728.1:p.Gly1244Glu | |
| XM_005246111.3:c.3731G>A | XP_005246168.1:p.Gly1244Glu | |
| XM_006712824.2:c.3731G>A | XP_006712887.1:p.Gly1244Glu | |
| XM_005246111.4:c.3731G>A | XP_005246168.1:p.Gly1244Glu | |
| XM_006712824.4:c.3731G>A | XP_006712887.1:p.Gly1244Glu | |
| NM_022817.3:c.3731G>A MANE Select | NP_073728.1:p.Gly1244Glu |