COSMIC:
COSM6351667 (not active)
Revel Score:
ENST00000323456
0.550
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55939701 (AMR)
Genomes Max Group AF
0.50818142 (EAS)
Exomes Max Group AF
0.59223046 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58506844A>C , CM000679.2:g.58506844A>C | GRCh38 |
| NC_000017.10:g.56584205A>C , CM000679.1:g.56584205A>C | GRCh37 |
| NC_000017.9:g.53939204A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682306.1:c.932T>G MANE Select | ENSP00000507664.1:p.Val311Gly | |
| ENST00000323456.9:c.890T>G | ENSP00000325285.5:p.Val297Gly | |
| ENST00000579925.5:c.890T>G | ENSP00000464067.1:p.Val297Gly | |
| NM_004687.4:c.890T>G | NP_004678.3:p.Val297Gly | |
| XM_005257784.2:c.932T>G | XP_005257841.1:p.Val311Gly | |
| XM_005257785.3:c.902T>G | XP_005257842.1:p.Val301Gly | |
| XM_005257786.3:c.890T>G | XP_005257843.1:p.Val297Gly | |
| XM_006722168.2:c.890T>G | XP_006722231.1:p.Val297Gly | |
| XM_011525460.1:c.902T>G | XP_011523762.1:p.Val301Gly | |
| XM_005257785.5:c.902T>G | XP_005257842.1:p.Val301Gly | |
| XM_005257786.5:c.890T>G | XP_005257843.1:p.Val297Gly | |
| XM_006722168.4:c.890T>G | XP_006722231.1:p.Val297Gly | |
| XM_011525460.3:c.902T>G | XP_011523762.1:p.Val301Gly | |
| NM_004687.5:c.890T>G | NP_004678.3:p.Val297Gly | |
| NM_001378066.1:c.902T>G | NP_001364995.1:p.Val301Gly | |
| NM_001378067.1:c.932T>G MANE Select | NP_001364996.1:p.Val311Gly |