COSMIC:
COSM5617902 (not active)
Revel Score:
ENST00000280606 (MANE Select)
0.193
ENST00000529564
0.193
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78159258 (EAS)
Genomes Max Group AF
0.7675981 (EAS)
Exomes Max Group AF
0.78124423 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31087690T>C , CM000678.2:g.31087690T>C | GRCh38 |
| NC_000016.9:g.31099011T>C , CM000678.1:g.31099011T>C | GRCh37 |
| NC_000016.8:g.31006512T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280606.7:c.89A>G MANE Select | ENSP00000280606.6:p.Gln30Arg | |
| ENST00000280606.6:c.89A>G | ENSP00000280606.6:p.Gln30Arg | |
| ENST00000486499.1:n.1939A>G | ||
| ENST00000492427.2:n.1039A>G | ||
| ENST00000529564.1:c.314A>G | ENSP00000431371.1:p.Gln105Arg | |
| ENST00000532364.1:c.174-792A>G | ENSP00000460316.1:n.174-792A>G | |
| ENST00000533518.5:c.438A>G | ||
| NM_001039503.2:c.89A>G | NP_001034592.1:p.Gln30Arg | |
| XM_011545816.1:c.89A>G | XP_011544118.1:p.Gln30Arg | |
| XM_011545817.1:c.89A>G | XP_011544119.1:p.Gln30Arg | |
| XM_011545818.1:c.89A>G | XP_011544120.1:p.Gln30Arg | |
| XM_011545819.1:c.89A>G | XP_011544121.1:p.Gln30Arg | |
| XM_011545820.1:c.89A>G | XP_011544122.1:p.Gln30Arg | |
| XM_011545816.2:c.89A>G | XP_011544118.1:p.Gln30Arg | |
| XM_011545817.2:c.89A>G | XP_011544119.1:p.Gln30Arg | |
| XM_011545818.3:c.89A>G | XP_011544120.1:p.Gln30Arg | |
| XM_011545819.2:c.89A>G | XP_011544121.1:p.Gln30Arg | |
| XM_011545820.2:c.89A>G | XP_011544122.1:p.Gln30Arg | |
| NM_001039503.3:c.89A>G MANE Select | NP_001034592.1:p.Gln30Arg |