COSMIC:
COSM446194 (not active)
Revel Score:
ENST00000361908
0.211
ENST00000392438
0.211
ENST00000361510 (MANE Select)
0.211
ENST00000361828
0.211
ENST00000419435
0.211
ENST00000392436
0.211
ENST00000434811
0.218
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56599056 (AFR)
Genomes Max Group AF
0.55957047 (AFR)
Exomes Max Group AF
0.56980522 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.193617202G>A , CM000665.2:g.193617202G>A | GRCh38 |
| NC_000003.11:g.193334991G>A , CM000665.1:g.193334991G>A | GRCh37 |
| NC_000003.10:g.194817685G>A | NCBI36 |
| NG_011605.1:g.29059G>A , LRG_337:g.29059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361510.8:c.473G>A MANE Select | ENSP00000355324.2:p.Ser158Asn | |
| ENST00000361828.7:c.473G>A | ENSP00000354429.3:p.Ser158Asn | |
| ENST00000361908.8:c.473G>A | ENSP00000354681.3:p.Ser158Asn | |
| ENST00000392436.7:c.473G>A | ENSP00000376231.3:p.Ser158Asn | |
| ENST00000392437.6:c.473G>A | ENSP00000376232.2:p.Ser158Asn | |
| ENST00000434811.2:c.93G>A | ||
| ENST00000642289.1:c.402G>A | ||
| ENST00000642445.1:c.473G>A | ENSP00000495535.1:p.Ser158Asn | |
| ENST00000642593.1:c.473G>A | ENSP00000494273.1:p.Ser158Asn | |
| ENST00000643329.1:c.101G>A | ENSP00000493673.1:p.Ser34Asn | |
| ENST00000643737.1:c.*500G>A | ENSP00000494210.1:n.*500G>A | |
| ENST00000644595.1:c.473G>A | ENSP00000494121.1:p.Ser158Asn | |
| ENST00000644629.1:c.133G>A | ||
| ENST00000644841.1:c.101G>A | ENSP00000493988.1:p.Ser34Asn | |
| ENST00000644959.1:c.442G>A | ||
| ENST00000645553.1:c.473G>A | ENSP00000494725.1:p.Ser158Asn | |
| ENST00000646085.1:c.473G>A | ENSP00000494509.1:p.Ser158Asn | |
| ENST00000646277.1:c.473G>A | ENSP00000495289.1:p.Ser158Asn | |
| ENST00000646699.1:c.402G>A | ||
| ENST00000646793.1:c.448+1432G>A | ENSP00000494512.1:n.448+1432G>A | |
| ENST00000361150.6:c.448+1432G>A | ENSP00000354781.2:n.448+1432G>A | |
| ENST00000361510.6:c.473G>A | ENSP00000355324.2:p.Ser158Asn | |
| ENST00000361715.6:c.449-582G>A | ENSP00000355311.2:n.449-582G>A | |
| ENST00000361828.6:c.473G>A | ENSP00000354429.2:p.Ser158Asn | |
| ENST00000361908.7:c.473G>A | ENSP00000354681.3:p.Ser158Asn | |
| ENST00000392436.6:c.473G>A | ENSP00000376231.2:p.Ser158Asn | |
| ENST00000392437.5:c.448+1432G>A | ENSP00000376232.1:n.448+1432G>A | |
| ENST00000392438.7:c.473G>A | ENSP00000376233.3:p.Ser158Asn | |
| ENST00000419435.5:c.101G>A | ENSP00000399877.1:p.Ser34Asn | |
| ENST00000434811.1:c.172G>A | ||
| ENST00000487986.1:n.376G>A | ||
| NM_015560.2:c.473G>A , LRG_337t1:c.473G>A | NP_056375.2:p.Ser158Asn | |
| NM_130831.2:c.448+1432G>A | NP_570844.1:n.448+1432G>A | |
| NM_130832.2:c.449-582G>A | NP_570845.1:n.449-582G>A | |
| NM_130833.2:c.448+1432G>A | NP_570846.1:n.448+1432G>A | |
| NM_130834.2:c.473G>A | NP_570847.2:p.Ser158Asn | |
| NM_130835.2:c.449-582G>A | NP_570848.1:n.449-582G>A | |
| NM_130836.2:c.473G>A | NP_570849.2:p.Ser158Asn | |
| NM_130837.2:c.473G>A , LRG_337t2:c.473G>A | NP_570850.2:p.Ser158Asn | |
| XM_011512863.1:c.473G>A | XP_011511165.1:p.Ser158Asn | |
| XM_011512864.1:c.473G>A | XP_011511166.1:p.Ser158Asn | |
| XM_011512865.1:c.473G>A | XP_011511167.1:p.Ser158Asn | |
| XM_011512866.1:c.448+1432G>A | XP_011511168.1:n.448+1432G>A | |
| XM_011512867.1:c.473G>A | XP_011511169.1:p.Ser158Asn | |
| XM_011512868.1:c.448+1432G>A | XP_011511170.1:n.448+1432G>A | |
| XM_011512869.1:c.473G>A | XP_011511171.1:p.Ser158Asn | |
| NM_001354663.1:c.76+1432G>A | NP_001341592.1:n.76+1432G>A | |
| NM_001354664.1:c.101G>A | NP_001341593.1:p.Ser34Asn | |
| XR_001740158.2:n.702G>A | ||
| XR_001740159.2:n.702G>A | ||
| NM_001354663.2:c.76+1432G>A | NP_001341592.1:n.76+1432G>A | |
| NM_001354664.2:c.101G>A | NP_001341593.1:p.Ser34Asn | |
| NM_130831.3:c.448+1432G>A | NP_570844.1:n.448+1432G>A | |
| NM_130832.3:c.449-582G>A | NP_570845.1:n.449-582G>A | |
| NM_130834.3:c.473G>A | NP_570847.2:p.Ser158Asn | |
| NM_130836.3:c.473G>A | NP_570849.2:p.Ser158Asn | |
| NM_015560.3:c.473G>A | NP_056375.2:p.Ser158Asn | |
| NM_130833.3:c.448+1432G>A | NP_570846.1:n.448+1432G>A | |
| NM_130835.3:c.449-582G>A | NP_570848.1:n.449-582G>A | |
| NM_130837.3:c.473G>A MANE Select | NP_570850.2:p.Ser158Asn |