Linked Data
ClinVar Variation Id:
1096647
ClinVar RCV Id:
RCV001417957
dbSNP Id:
rs188050006
ExAC:
17:37884180 C / T
gnomAD v2:
17-37884180-C-T
gnomAD v3:
17-39727927-C-T
gnomAD v4:
17-39727927-C-T
COSMIC:
COSM3795562
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727927C>T , CM000679.2:g.39727927C>T | GRCh38 |
| NC_000017.10:g.37884180C>T , CM000679.1:g.37884180C>T | GRCh37 |
| NC_000017.9:g.35137706C>T | NCBI36 |
| NG_007503.1:g.44788C>T , LRG_724:g.44788C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3651C>T MANE Select | ENSP00000269571.4:p.Phe1217= | |
| ENST00000269571.9:c.3651C>T | ENSP00000269571.4:p.Phe1217= | |
| ENST00000406381.6:c.3561C>T | ENSP00000385185.2:p.Phe1187= | |
| ENST00000445658.6:c.2823C>T | ENSP00000404047.2:p.Phe941= | |
| ENST00000541774.5:c.3606C>T | ENSP00000446466.1:p.Phe1202= | |
| ENST00000578373.5:c.*3441C>T | ENSP00000463427.1:n.*3441C>T | |
| ENST00000584450.5:c.*230C>T | ENSP00000463714.1:n.*230C>T | |
| ENST00000584601.5:c.3561C>T | ENSP00000462438.1:p.Phe1187= | |
| NM_001005862.2:c.3561C>T , LRG_724t1:c.3561C>T | NP_001005862.1:p.Phe1187= | |
| NM_001289936.1:c.3606C>T , LRG_724t4:c.3606C>T | NP_001276865.1:p.Phe1202= | |
| NM_001289937.1:c.*230C>T | NP_001276866.1:n.*230C>T | |
| NM_004448.3:c.3651C>T , LRG_724t2:c.3651C>T | NP_004439.2:p.Phe1217= | |
| NR_110535.1:n.3975C>T | ||
| XM_024450641.1:c.3789C>T | XP_024306409.1:p.Phe1263= | |
| XM_024450642.1:c.3744C>T | XP_024306410.1:p.Phe1248= | |
| XM_024450643.1:c.3699C>T | XP_024306411.1:p.Phe1233= | |
| NM_001005862.3:c.3561C>T | NP_001005862.1:p.Phe1187= | |
| NM_001289936.2:c.3606C>T | NP_001276865.1:p.Phe1202= | |
| NM_001289937.2:c.*230C>T | NP_001276866.1:n.*230C>T | |
| NM_001382782.1:c.3561C>T | NP_001369711.1:p.Phe1187= | |
| NM_001382783.1:c.3561C>T | NP_001369712.1:p.Phe1187= | |
| NM_001382784.1:c.3768C>T | NP_001369713.1:p.Phe1256= | |
| NM_001382785.1:c.3753C>T | NP_001369714.1:p.Phe1251= | |
| NM_001382786.1:c.3732C>T | NP_001369715.1:p.Phe1244= | |
| NM_001382787.1:c.3726C>T | NP_001369716.1:p.Phe1242= | |
| NM_001382788.1:c.3681C>T | NP_001369717.1:p.Phe1227= | |
| NM_001382789.1:c.3672C>T | NP_001369718.1:p.Phe1224= | |
| NM_001382790.1:c.3648C>T | NP_001369719.1:p.Phe1216= | |
| NM_001382791.1:c.3642C>T | NP_001369720.1:p.Phe1214= | |
| NM_001382792.1:c.3615C>T | NP_001369721.1:p.Phe1205= | |
| NM_001382793.1:c.3609C>T | NP_001369722.1:p.Phe1203= | |
| NM_001382794.1:c.3609C>T | NP_001369723.1:p.Phe1203= | |
| NM_001382795.1:c.3603C>T | NP_001369724.1:p.Phe1201= | |
| NM_001382796.1:c.3564C>T | NP_001369725.1:p.Phe1188= | |
| NM_001382797.1:c.3552C>T | NP_001369726.1:p.Phe1184= | |
| NM_001382798.1:c.3495C>T | NP_001369727.1:p.Phe1165= | |
| NM_001382799.1:c.3471C>T | NP_001369728.1:p.Phe1157= | |
| NM_001382800.1:c.3465C>T | NP_001369729.1:p.Phe1155= | |
| NM_001382801.1:c.3447C>T | NP_001369730.1:p.Phe1149= | |
| NM_001382802.1:c.3393C>T | NP_001369731.1:p.Phe1131= | |
| NM_001382803.1:c.*230C>T | NP_001369732.1:n.*230C>T | |
| NM_001382804.1:c.2823C>T | NP_001369733.1:p.Phe941= | |
| NM_001382805.1:c.2700C>T | NP_001369734.1:p.Phe900= | |
| NM_001382806.1:c.2613C>T | NP_001369735.1:p.Phe871= | |
| NM_004448.4:c.3651C>T MANE Select | NP_004439.2:p.Phe1217= | |
| NR_110535.2:n.3889C>T |