COSMIC:
COSM3759997 (not active)
Revel Score:
ENST00000360110 (MANE Select)
0.022
ENST00000420415
0.022
ENST00000392396
0.022
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58010744 (MID)
Genomes Max Group AF
0.54692597 (NFE)
Exomes Max Group AF
0.58181552 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.196073940C>T , CM000665.2:g.196073940C>T | GRCh38 |
| NC_000003.11:g.195800811C>T , CM000665.1:g.195800811C>T | GRCh37 |
| NC_000003.10:g.197285208C>T | NCBI36 |
| NG_046395.1:g.13222G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426789.6:n.495G>A | ||
| ENST00000475593.6:n.495G>A | ||
| ENST00000477148.2:n.495G>A | ||
| ENST00000698274.1:c.424G>A | ENSP00000513645.1:p.Gly142Ser | |
| ENST00000698275.1:n.495G>A | ||
| ENST00000698280.1:c.424G>A | ENSP00000513646.1:p.Gly142Ser | |
| ENST00000698281.1:c.424G>A | ENSP00000513647.1:p.Gly142Ser | |
| ENST00000698282.1:c.424G>A | ENSP00000513648.1:p.Gly142Ser | |
| ENST00000698283.1:c.424G>A | ENSP00000513649.1:p.Gly142Ser | |
| ENST00000698284.1:n.495G>A | ||
| ENST00000698285.1:c.-412-1788G>A | ENSP00000513650.1:n.-412-1788G>A | |
| ENST00000698286.1:c.-412-1788G>A | ENSP00000513651.1:n.-412-1788G>A | |
| ENST00000698287.1:n.707G>A | ||
| ENST00000698288.1:c.424G>A | ENSP00000513652.1:p.Gly142Ser | |
| ENST00000698289.1:n.495G>A | ||
| ENST00000698290.1:c.424G>A | ENSP00000513653.1:p.Gly142Ser | |
| ENST00000698291.1:c.424G>A | ENSP00000513654.1:p.Gly142Ser | |
| ENST00000698292.1:n.532G>A | ||
| ENST00000698293.1:n.558G>A | ||
| ENST00000698294.1:c.26+3124G>A | ||
| ENST00000698295.1:c.-309-1788G>A | ENSP00000513656.1:n.-309-1788G>A | |
| ENST00000360110.9:c.424G>A MANE Select | ENSP00000353224.4:p.Gly142Ser | |
| ENST00000360110.8:c.424G>A | ENSP00000353224.4:p.Gly142Ser | |
| ENST00000392396.7:c.424G>A | ENSP00000376197.3:p.Gly142Ser | |
| ENST00000420415.5:c.181G>A | ENSP00000390133.1:p.Gly61Ser | |
| ENST00000421258.1:c.238+1219G>A | ENSP00000402839.1:n.238+1219G>A | |
| NM_001128148.1:c.424G>A | NP_001121620.1:p.Gly142Ser | |
| NM_001128148.2:c.424G>A | NP_001121620.1:p.Gly142Ser | |
| NM_001313965.1:c.181G>A | NP_001300894.1:p.Gly61Ser | |
| NM_001313966.1:c.-412-1788G>A | NP_001300895.1:n.-412-1788G>A | |
| NM_003234.2:c.424G>A | NP_003225.2:p.Gly142Ser | |
| NM_003234.3:c.424G>A | NP_003225.2:p.Gly142Ser | |
| XM_011513112.1:c.424G>A | XP_011511414.1:p.Gly142Ser | |
| XM_024453731.1:c.424G>A | XP_024309499.1:p.Gly142Ser | |
| XM_024453732.1:c.424G>A | XP_024309500.1:p.Gly142Ser | |
| XR_002959575.1:n.528G>A | ||
| XR_002959576.1:n.528G>A | ||
| XR_002959577.1:n.528G>A | ||
| XR_002959578.1:n.528G>A | ||
| NM_001128148.3:c.424G>A MANE Select | NP_001121620.1:p.Gly142Ser | |
| NM_001313965.2:c.181G>A | NP_001300894.1:p.Gly61Ser | |
| NM_001313966.2:c.-412-1788G>A | NP_001300895.1:n.-412-1788G>A | |
| NM_003234.4:c.424G>A | NP_003225.2:p.Gly142Ser |