COSMIC:
COSM1384191 (not active)
Revel Score:
ENST00000017003 (MANE Select)
0.114
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40182322 (MID)
Genomes Max Group AF
0.3898162 (NFE)
Exomes Max Group AF
0.40320924 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50360095C>G , CM000679.2:g.50360095C>G | GRCh38 |
| NC_000017.10:g.48437456C>G , CM000679.1:g.48437456C>G | GRCh37 |
| NC_000017.9:g.45792455C>G | NCBI36 |
| NG_012175.1:g.19064C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000017003.7:c.2402C>G MANE Select | ENSP00000017003.2:p.Thr801Arg | |
| ENST00000017003.6:c.2402C>G | ENSP00000017003.2:p.Thr801Arg | |
| ENST00000376550.7:c.*286C>G | ENSP00000365733.3:n.*286C>G | |
| ENST00000507602.5:c.1941+2843C>G | ENSP00000426501.1:n.1941+2843C>G | |
| ENST00000571021.1:n.1118C>G | ||
| NM_022167.3:c.2402C>G | NP_071450.2:p.Thr801Arg | |
| NR_110010.1:n.2315C>G | ||
| XM_005257572.3:c.2306C>G | XP_005257629.1:p.Thr769Arg | |
| XM_011525114.1:c.1811C>G | XP_011523416.1:p.Thr604Arg | |
| XM_005257572.4:c.2306C>G | XP_005257629.1:p.Thr769Arg | |
| NM_022167.4:c.2402C>G MANE Select | NP_071450.2:p.Thr801Arg | |
| NR_110010.2:n.2221C>G |