COSMIC:
COSM4969008 (not active)
COSM4969009 (not active)
Revel Score:
ENST00000319004 (MANE Select)
0.334
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83388811 (AFR)
Genomes Max Group AF
0.82731011 (AFR)
Exomes Max Group AF
0.83697305 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.746307G>C , CM000679.2:g.746307G>C | GRCh38 |
| NC_000017.10:g.649547G>C , CM000679.1:g.649547G>C | GRCh37 |
| NC_000017.9:g.596297G>C | NCBI36 |
| NG_046938.1:g.11566C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319004.6:c.1736C>G MANE Select | ENSP00000321706.5:p.Ala579Gly | |
| ENST00000319004.5:c.1736C>G | ENSP00000321706.5:p.Ala579Gly | |
| ENST00000576778.1:c.1703C>G | ENSP00000459565.1:p.Ala568Gly | |
| NM_015721.2:c.1736C>G | NP_056536.2:p.Ala579Gly | |
| XM_005256667.3:c.1748C>G | XP_005256724.1:p.Ala583Gly | |
| XM_005256668.3:c.1748C>G | XP_005256725.1:p.Ala583Gly | |
| XM_005256670.3:c.1703C>G | XP_005256727.1:p.Ala568Gly | |
| XM_011523910.1:c.1748C>G | XP_011522212.1:p.Ala583Gly | |
| XM_011523911.1:c.1748C>G | XP_011522213.1:p.Ala583Gly | |
| XM_011523912.1:c.1703C>G | XP_011522214.1:p.Ala568Gly | |
| XM_011523913.1:c.1703C>G | XP_011522215.1:p.Ala568Gly | |
| XM_005256667.4:c.1748C>G | XP_005256724.1:p.Ala583Gly | |
| XM_005256670.5:c.1703C>G | XP_005256727.1:p.Ala568Gly | |
| XM_011523910.2:c.1748C>G | XP_011522212.1:p.Ala583Gly | |
| XM_011523911.2:c.1748C>G | XP_011522213.1:p.Ala583Gly | |
| XM_011523912.2:c.1703C>G | XP_011522214.1:p.Ala568Gly | |
| XM_011523913.2:c.1703C>G | XP_011522215.1:p.Ala568Gly | |
| XM_017024709.1:c.1748C>G | XP_016880198.1:p.Ala583Gly | |
| NM_015721.3:c.1736C>G MANE Select | NP_056536.2:p.Ala579Gly |