COSMIC:
COSN19701198 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69742505 (EAS)
Genomes Max Group AF
0.69742505 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155179017C>T , CM000663.2:g.155179017C>T | GRCh38 |
| NC_000001.10:g.155151493C>T , CM000663.1:g.155151493C>T | GRCh37 |
| NC_000001.9:g.153418117C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334634.9:c.1285+404C>T MANE Select | ENSP00000334657.4:n.1285+404C>T | |
| ENST00000473363.3:c.49-5543G>A | ENSP00000477381.3:n.49-5543G>A | |
| ENST00000334634.8:c.1285+404C>T | ENSP00000334657.4:n.1285+404C>T | |
| ENST00000368382.5:c.1216+404C>T | ENSP00000357366.1:n.1216+404C>T | |
| ENST00000368383.7:c.1285+404C>T | ENSP00000357367.3:n.1285+404C>T | |
| ENST00000368385.8:c.1285+404C>T | ENSP00000357369.4:n.1285+404C>T | |
| ENST00000392451.6:c.1159+404C>T | ENSP00000376245.3:n.1159+404C>T | |
| ENST00000468878.1:n.1562+171C>T | ||
| ENST00000473363.2:c.49-5543G>A | ||
| ENST00000474430.5:n.1390+171C>T | ||
| ENST00000543729.5:c.1323+171C>T | ENSP00000442719.2:n.1323+171C>T | |
| ENST00000545012.5:c.907+404C>T | ENSP00000440254.1:n.907+404C>T | |
| ENST00000611379.1:c.1246+404C>T | ENSP00000478669.1:n.1246+404C>T | |
| NM_001256599.1:c.1216+404C>T | NP_001243528.1:n.1216+404C>T | |
| NM_001256600.1:c.1159+404C>T | NP_001243529.1:n.1159+404C>T | |
| NM_001256601.1:c.1246+404C>T | NP_001243530.1:n.1246+404C>T | |
| NM_001282378.1:c.907+404C>T | NP_001269307.1:n.907+404C>T | |
| NM_001282379.1:c.1285+404C>T | NP_001269308.1:n.1285+404C>T | |
| NM_025058.4:c.1285+404C>T | NP_079334.3:n.1285+404C>T | |
| NR_046327.1:n.1503+171C>T | ||
| NR_046329.1:n.1562+171C>T | ||
| NR_104150.1:n.1503+171C>T | ||
| XM_011510001.1:c.1447+404C>T | XP_011508303.1:n.1447+404C>T | |
| XM_011510002.1:c.1372+404C>T | XP_011508304.1:n.1372+404C>T | |
| XM_011510003.1:c.1360+404C>T | XP_011508305.1:n.1360+404C>T | |
| XM_011510004.1:c.1656C>T | XP_011508306.1:p.Phe552= | |
| XR_921953.1:n.1893+171C>T | ||
| XR_921954.1:n.1893+171C>T | ||
| XM_011510002.2:c.1372+404C>T | XP_011508304.1:n.1372+404C>T | |
| XM_017002393.1:c.1246+404C>T | XP_016857882.1:n.1246+404C>T | |
| XM_024449914.1:c.1372+404C>T | XP_024305682.1:n.1372+404C>T | |
| XM_024449915.1:c.1306+404C>T | XP_024305683.1:n.1306+404C>T | |
| XR_001737433.2:n.1477+171C>T | ||
| XR_001737435.1:n.1617+171C>T | ||
| XR_002957635.1:n.1363+171C>T | ||
| NM_025058.5:c.1285+404C>T MANE Select | NP_079334.3:n.1285+404C>T | |
| NM_001256599.2:c.1216+404C>T | NP_001243528.1:n.1216+404C>T | |
| NM_001282379.2:c.1285+404C>T | NP_001269308.1:n.1285+404C>T | |
| NR_046327.2:n.1441+171C>T | ||
| NR_046329.2:n.1722+171C>T | ||
| NR_104150.2:n.1441+171C>T | ||
| NM_001282378.2:c.907+404C>T | NP_001269307.1:n.907+404C>T |