Linked Data
dbSNP Id:
rs747245215
ExAC:
17:37884178 T / C
gnomAD v2:
17-37884178-T-C
gnomAD v3:
17-39727925-T-C
gnomAD v4:
17-39727925-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727925T>C , CM000679.2:g.39727925T>C | GRCh38 |
| NC_000017.10:g.37884178T>C , CM000679.1:g.37884178T>C | GRCh37 |
| NC_000017.9:g.35137704T>C | NCBI36 |
| NG_007503.1:g.44786T>C , LRG_724:g.44786T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3649T>C MANE Select | ENSP00000269571.4:p.Phe1217Leu | |
| ENST00000269571.9:c.3649T>C | ENSP00000269571.4:p.Phe1217Leu | |
| ENST00000406381.6:c.3559T>C | ENSP00000385185.2:p.Phe1187Leu | |
| ENST00000445658.6:c.2821T>C | ENSP00000404047.2:p.Phe941Leu | |
| ENST00000541774.5:c.3604T>C | ENSP00000446466.1:p.Phe1202Leu | |
| ENST00000578373.5:c.*3439T>C | ENSP00000463427.1:n.*3439T>C | |
| ENST00000584450.5:c.*228T>C | ENSP00000463714.1:n.*228T>C | |
| ENST00000584601.5:c.3559T>C | ENSP00000462438.1:p.Phe1187Leu | |
| NM_001005862.2:c.3559T>C , LRG_724t1:c.3559T>C | NP_001005862.1:p.Phe1187Leu | |
| NM_001289936.1:c.3604T>C , LRG_724t4:c.3604T>C | NP_001276865.1:p.Phe1202Leu | |
| NM_001289937.1:c.*228T>C | NP_001276866.1:n.*228T>C | |
| NM_004448.3:c.3649T>C , LRG_724t2:c.3649T>C | NP_004439.2:p.Phe1217Leu | |
| NR_110535.1:n.3973T>C | ||
| XM_024450641.1:c.3787T>C | XP_024306409.1:p.Phe1263Leu | |
| XM_024450642.1:c.3742T>C | XP_024306410.1:p.Phe1248Leu | |
| XM_024450643.1:c.3697T>C | XP_024306411.1:p.Phe1233Leu | |
| NM_001005862.3:c.3559T>C | NP_001005862.1:p.Phe1187Leu | |
| NM_001289936.2:c.3604T>C | NP_001276865.1:p.Phe1202Leu | |
| NM_001289937.2:c.*228T>C | NP_001276866.1:n.*228T>C | |
| NM_001382782.1:c.3559T>C | NP_001369711.1:p.Phe1187Leu | |
| NM_001382783.1:c.3559T>C | NP_001369712.1:p.Phe1187Leu | |
| NM_001382784.1:c.3766T>C | NP_001369713.1:p.Phe1256Leu | |
| NM_001382785.1:c.3751T>C | NP_001369714.1:p.Phe1251Leu | |
| NM_001382786.1:c.3730T>C | NP_001369715.1:p.Phe1244Leu | |
| NM_001382787.1:c.3724T>C | NP_001369716.1:p.Phe1242Leu | |
| NM_001382788.1:c.3679T>C | NP_001369717.1:p.Phe1227Leu | |
| NM_001382789.1:c.3670T>C | NP_001369718.1:p.Phe1224Leu | |
| NM_001382790.1:c.3646T>C | NP_001369719.1:p.Phe1216Leu | |
| NM_001382791.1:c.3640T>C | NP_001369720.1:p.Phe1214Leu | |
| NM_001382792.1:c.3613T>C | NP_001369721.1:p.Phe1205Leu | |
| NM_001382793.1:c.3607T>C | NP_001369722.1:p.Phe1203Leu | |
| NM_001382794.1:c.3607T>C | NP_001369723.1:p.Phe1203Leu | |
| NM_001382795.1:c.3601T>C | NP_001369724.1:p.Phe1201Leu | |
| NM_001382796.1:c.3562T>C | NP_001369725.1:p.Phe1188Leu | |
| NM_001382797.1:c.3550T>C | NP_001369726.1:p.Phe1184Leu | |
| NM_001382798.1:c.3493T>C | NP_001369727.1:p.Phe1165Leu | |
| NM_001382799.1:c.3469T>C | NP_001369728.1:p.Phe1157Leu | |
| NM_001382800.1:c.3463T>C | NP_001369729.1:p.Phe1155Leu | |
| NM_001382801.1:c.3445T>C | NP_001369730.1:p.Phe1149Leu | |
| NM_001382802.1:c.3391T>C | NP_001369731.1:p.Phe1131Leu | |
| NM_001382803.1:c.*228T>C | NP_001369732.1:n.*228T>C | |
| NM_001382804.1:c.2821T>C | NP_001369733.1:p.Phe941Leu | |
| NM_001382805.1:c.2698T>C | NP_001369734.1:p.Phe900Leu | |
| NM_001382806.1:c.2611T>C | NP_001369735.1:p.Phe871Leu | |
| NM_004448.4:c.3649T>C MANE Select | NP_004439.2:p.Phe1217Leu | |
| NR_110535.2:n.3887T>C |