COSMIC:
COSM3760279 (not active)
COSM3760280 (not active)
Revel Score:
ENST00000416333
0.071
ENST00000302003
0.099
ENST00000339542
0.099
ENST00000344629 (MANE Select)
0.043
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.53031691 (EAS)
Genomes Max Group AF
0.55450041 (EAS)
Exomes Max Group AF
0.52533308 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9757089C>G , CM000665.2:g.9757089C>G | GRCh38 |
| NC_000003.11:g.9798773C>G , CM000665.1:g.9798773C>G | GRCh37 |
| NC_000003.10:g.9773773C>G | NCBI36 |
| NG_012106.1:g.12146C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302036.12:c.948+273C>G | ENSP00000306561.7:n.948+273C>G | |
| ENST00000352937.6:c.747+2204C>G | ENSP00000344899.6:n.747+2204C>G | |
| ENST00000707074.1:c.797+273C>G | ENSP00000516725.1:n.797+273C>G | |
| ENST00000344629.12:c.977C>G MANE Select | ENSP00000342851.7:p.Ser326Cys | |
| ENST00000302003.11:c.994C>G | ENSP00000305584.7:p.Pro332Ala | |
| ENST00000302008.12:c.948+273C>G | ENSP00000305527.8:n.948+273C>G | |
| ENST00000302036.11:c.948+273C>G | ENSP00000306561.7:n.948+273C>G | |
| ENST00000339511.9:c.*246C>G | ENSP00000345520.5:n.*246C>G | |
| ENST00000344629.11:c.977C>G | ENSP00000342851.7:p.Ser326Cys | |
| ENST00000349503.9:c.747+2204C>G | ENSP00000303132.6:n.747+2204C>G | |
| ENST00000352937.5:c.463+2204C>G | ||
| ENST00000383825.2:n.370C>G | ||
| ENST00000383826.9:c.565+5140C>G | ENSP00000373337.5:n.565+5140C>G | |
| ENST00000416333.1:c.294C>G | ||
| ENST00000425665.1:c.*452C>G | ENSP00000396034.1:n.*452C>G | |
| ENST00000426518.5:c.294+5140C>G | ||
| ENST00000449570.6:c.948+273C>G | ENSP00000403598.2:n.948+273C>G | |
| NM_002542.5:c.977C>G | NP_002533.1:p.Ser326Cys | |
| NM_016819.3:c.*246C>G | NP_058212.1:n.*246C>G | |
| NM_016820.3:c.994C>G | NP_058213.1:p.Pro332Ala | |
| NM_016821.2:c.948+273C>G | NP_058214.1:n.948+273C>G | |
| NM_016826.2:c.747+2204C>G | NP_058434.1:n.747+2204C>G | |
| NM_016827.2:c.565+5140C>G | NP_058436.1:n.565+5140C>G | |
| NM_016828.2:c.948+273C>G | NP_058437.1:n.948+273C>G | |
| NM_016829.2:c.948+273C>G | NP_058438.1:n.948+273C>G | |
| XM_011533760.1:c.948+273C>G | XP_011532062.1:n.948+273C>G | |
| NM_001354648.1:c.*246C>G | NP_001341577.1:n.*246C>G | |
| NM_001354649.1:c.644C>G | NP_001341578.1:p.Ser215Cys | |
| NM_001354650.1:c.797+273C>G | NP_001341579.1:n.797+273C>G | |
| NM_001354651.1:c.898+468C>G | NP_001341580.1:n.898+468C>G | |
| NM_001354652.1:c.797+273C>G | NP_001341581.1:n.797+273C>G | |
| NR_148930.1:n.1316C>G | ||
| NR_148931.1:n.954C>G | ||
| NR_148932.1:n.1382C>G | ||
| XM_011533760.2:c.948+273C>G | XP_011532062.1:n.948+273C>G | |
| XM_017006493.2:c.826C>G | XP_016861982.1:p.Pro276Ala | |
| XM_017006494.2:c.797+273C>G | XP_016861983.1:n.797+273C>G | |
| XM_017006495.2:c.843C>G | XP_016861984.1:p.Ile281Met | |
| XM_017006496.2:c.948+273C>G | XP_016861985.1:n.948+273C>G | |
| XM_017006497.2:c.797+273C>G | XP_016861986.1:n.797+273C>G | |
| XM_017006499.2:c.797+273C>G | XP_016861988.1:n.797+273C>G | |
| NM_001354648.2:c.*246C>G | NP_001341577.1:n.*246C>G | |
| NM_001354649.2:c.644C>G | NP_001341578.1:p.Ser215Cys | |
| NM_001354650.2:c.797+273C>G | NP_001341579.1:n.797+273C>G | |
| NM_001354651.2:c.898+468C>G | NP_001341580.1:n.898+468C>G | |
| NM_001354652.2:c.797+273C>G | NP_001341581.1:n.797+273C>G | |
| NM_002542.6:c.977C>G MANE Select | NP_002533.1:p.Ser326Cys | |
| NM_016819.4:c.*246C>G | NP_058212.1:n.*246C>G | |
| NM_016820.4:c.994C>G | NP_058213.1:p.Pro332Ala | |
| NM_016821.3:c.948+273C>G | NP_058214.1:n.948+273C>G | |
| NM_016826.3:c.747+2204C>G | NP_058434.1:n.747+2204C>G | |
| NM_016827.3:c.565+5140C>G | NP_058436.1:n.565+5140C>G | |
| NM_016828.3:c.948+273C>G | NP_058437.1:n.948+273C>G | |
| NM_016829.3:c.948+273C>G | NP_058438.1:n.948+273C>G | |
| NR_148930.2:n.1308C>G | ||
| NR_148931.2:n.946C>G | ||
| NR_148932.2:n.1374C>G |