Linked Data
dbSNP Id:
rs1251128027
gnomAD v2:
17-37884168-C-T
gnomAD v4:
17-39727915-C-T
COSMIC:
COSM3712302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727915C>T , CM000679.2:g.39727915C>T | GRCh38 |
| NC_000017.10:g.37884168C>T , CM000679.1:g.37884168C>T | GRCh37 |
| NC_000017.9:g.35137694C>T | NCBI36 |
| NG_007503.1:g.44776C>T , LRG_724:g.44776C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3639C>T MANE Select | ENSP00000269571.4:p.Phe1213= | |
| ENST00000269571.9:c.3639C>T | ENSP00000269571.4:p.Phe1213= | |
| ENST00000406381.6:c.3549C>T | ENSP00000385185.2:p.Phe1183= | |
| ENST00000445658.6:c.2811C>T | ENSP00000404047.2:p.Phe937= | |
| ENST00000541774.5:c.3594C>T | ENSP00000446466.1:p.Phe1198= | |
| ENST00000578373.5:c.*3429C>T | ENSP00000463427.1:n.*3429C>T | |
| ENST00000584450.5:c.*218C>T | ENSP00000463714.1:n.*218C>T | |
| ENST00000584601.5:c.3549C>T | ENSP00000462438.1:p.Phe1183= | |
| NM_001005862.2:c.3549C>T , LRG_724t1:c.3549C>T | NP_001005862.1:p.Phe1183= | |
| NM_001289936.1:c.3594C>T , LRG_724t4:c.3594C>T | NP_001276865.1:p.Phe1198= | |
| NM_001289937.1:c.*218C>T | NP_001276866.1:n.*218C>T | |
| NM_004448.3:c.3639C>T , LRG_724t2:c.3639C>T | NP_004439.2:p.Phe1213= | |
| NR_110535.1:n.3963C>T | ||
| XM_024450641.1:c.3777C>T | XP_024306409.1:p.Phe1259= | |
| XM_024450642.1:c.3732C>T | XP_024306410.1:p.Phe1244= | |
| XM_024450643.1:c.3687C>T | XP_024306411.1:p.Phe1229= | |
| NM_001005862.3:c.3549C>T | NP_001005862.1:p.Phe1183= | |
| NM_001289936.2:c.3594C>T | NP_001276865.1:p.Phe1198= | |
| NM_001289937.2:c.*218C>T | NP_001276866.1:n.*218C>T | |
| NM_001382782.1:c.3549C>T | NP_001369711.1:p.Phe1183= | |
| NM_001382783.1:c.3549C>T | NP_001369712.1:p.Phe1183= | |
| NM_001382784.1:c.3756C>T | NP_001369713.1:p.Phe1252= | |
| NM_001382785.1:c.3741C>T | NP_001369714.1:p.Phe1247= | |
| NM_001382786.1:c.3720C>T | NP_001369715.1:p.Phe1240= | |
| NM_001382787.1:c.3714C>T | NP_001369716.1:p.Phe1238= | |
| NM_001382788.1:c.3669C>T | NP_001369717.1:p.Phe1223= | |
| NM_001382789.1:c.3660C>T | NP_001369718.1:p.Phe1220= | |
| NM_001382790.1:c.3636C>T | NP_001369719.1:p.Phe1212= | |
| NM_001382791.1:c.3630C>T | NP_001369720.1:p.Phe1210= | |
| NM_001382792.1:c.3603C>T | NP_001369721.1:p.Phe1201= | |
| NM_001382793.1:c.3597C>T | NP_001369722.1:p.Phe1199= | |
| NM_001382794.1:c.3597C>T | NP_001369723.1:p.Phe1199= | |
| NM_001382795.1:c.3591C>T | NP_001369724.1:p.Phe1197= | |
| NM_001382796.1:c.3552C>T | NP_001369725.1:p.Phe1184= | |
| NM_001382797.1:c.3540C>T | NP_001369726.1:p.Phe1180= | |
| NM_001382798.1:c.3483C>T | NP_001369727.1:p.Phe1161= | |
| NM_001382799.1:c.3459C>T | NP_001369728.1:p.Phe1153= | |
| NM_001382800.1:c.3453C>T | NP_001369729.1:p.Phe1151= | |
| NM_001382801.1:c.3435C>T | NP_001369730.1:p.Phe1145= | |
| NM_001382802.1:c.3381C>T | NP_001369731.1:p.Phe1127= | |
| NM_001382803.1:c.*218C>T | NP_001369732.1:n.*218C>T | |
| NM_001382804.1:c.2811C>T | NP_001369733.1:p.Phe937= | |
| NM_001382805.1:c.2688C>T | NP_001369734.1:p.Phe896= | |
| NM_001382806.1:c.2601C>T | NP_001369735.1:p.Phe867= | |
| NM_004448.4:c.3639C>T MANE Select | NP_004439.2:p.Phe1213= | |
| NR_110535.2:n.3877C>T |