Linked Data
ClinVar Variation Id:
134067
dbSNP Id:
rs193171026
ExAC:
17:37856534 C / T
gnomAD v2:
17-37856534-C-T
gnomAD v3:
17-39700281-C-T
gnomAD v4:
17-39700281-C-T
COSMIC:
COSM5414789
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39700281C>T , CM000679.2:g.39700281C>T | GRCh38 |
| NC_000017.10:g.37856534C>T , CM000679.1:g.37856534C>T | GRCh37 |
| NC_000017.9:g.35110060C>T | NCBI36 |
| NG_007503.1:g.17142C>T , LRG_724:g.17142C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.43C>T MANE Select | ENSP00000269571.4:p.Leu15Phe | |
| ENST00000269571.9:c.43C>T | ENSP00000269571.4:p.Leu15Phe | |
| ENST00000406381.6:c.-18+5100C>T | ENSP00000385185.2:n.-18+5100C>T | |
| ENST00000445658.6:c.43C>T | ENSP00000404047.2:p.Leu15Phe | |
| ENST00000541774.5:c.28+694C>T | ENSP00000446466.1:n.28+694C>T | |
| ENST00000578199.5:c.-18+5100C>T | ENSP00000462808.1:n.-18+5100C>T | |
| ENST00000578373.5:c.43C>T | ENSP00000463427.1:p.Leu15Phe | |
| ENST00000582648.5:c.43C>T | ENSP00000462024.1:p.Leu15Phe | |
| ENST00000582788.5:n.208C>T | ||
| ENST00000584450.5:c.43C>T | ENSP00000463714.1:p.Leu15Phe | |
| ENST00000584601.5:c.-18+694C>T | ENSP00000462438.1:n.-18+694C>T | |
| ENST00000584908.5:n.55C>T | ||
| NM_001005862.2:c.-18+5100C>T , LRG_724t1:c.-18+5100C>T | NP_001005862.1:n.-18+5100C>T | |
| NM_001289936.1:c.28+694C>T , LRG_724t4:c.28+694C>T | NP_001276865.1:n.28+694C>T | |
| NM_001289937.1:c.43C>T | NP_001276866.1:p.Leu15Phe | |
| NM_001289938.1:c.-18+5100C>T , LRG_724t3:c.-18+5100C>T | NP_001276867.1:n.-18+5100C>T | |
| NM_004448.3:c.43C>T , LRG_724t2:c.43C>T | NP_004439.2:p.Leu15Phe | |
| NR_110535.1:n.304C>T | ||
| XM_024450641.1:c.43C>T | XP_024306409.1:p.Leu15Phe | |
| XM_024450642.1:c.28+694C>T | XP_024306410.1:n.28+694C>T | |
| XM_024450643.1:c.-18+5100C>T | XP_024306411.1:n.-18+5100C>T | |
| NM_001005862.3:c.-18+5100C>T | NP_001005862.1:n.-18+5100C>T | |
| NM_001289936.2:c.28+694C>T | NP_001276865.1:n.28+694C>T | |
| NM_001289937.2:c.43C>T | NP_001276866.1:p.Leu15Phe | |
| NM_001289938.2:c.-18+5100C>T | NP_001276867.1:n.-18+5100C>T | |
| NM_001382782.1:c.-18+5100C>T | NP_001369711.1:n.-18+5100C>T | |
| NM_001382783.1:c.-173C>T | NP_001369712.1:n.-173C>T | |
| NM_001382784.1:c.43C>T | NP_001369713.1:p.Leu15Phe | |
| NM_001382785.1:c.43C>T | NP_001369714.1:p.Leu15Phe | |
| NM_001382786.1:c.43C>T | NP_001369715.1:p.Leu15Phe | |
| NM_001382787.1:c.43C>T | NP_001369716.1:p.Leu15Phe | |
| NM_001382788.1:c.43C>T | NP_001369717.1:p.Leu15Phe | |
| NM_001382789.1:c.43C>T | NP_001369718.1:p.Leu15Phe | |
| NM_001382790.1:c.43C>T | NP_001369719.1:p.Leu15Phe | |
| NM_001382791.1:c.43C>T | NP_001369720.1:p.Leu15Phe | |
| NM_001382792.1:c.43C>T | NP_001369721.1:p.Leu15Phe | |
| NM_001382793.1:c.43C>T | NP_001369722.1:p.Leu15Phe | |
| NM_001382794.1:c.43C>T | NP_001369723.1:p.Leu15Phe | |
| NM_001382795.1:c.43C>T | NP_001369724.1:p.Leu15Phe | |
| NM_001382796.1:c.43C>T | NP_001369725.1:p.Leu15Phe | |
| NM_001382797.1:c.43C>T | NP_001369726.1:p.Leu15Phe | |
| NM_001382798.1:c.43C>T | NP_001369727.1:p.Leu15Phe | |
| NM_001382799.1:c.43C>T | NP_001369728.1:p.Leu15Phe | |
| NM_001382800.1:c.43C>T | NP_001369729.1:p.Leu15Phe | |
| NM_001382801.1:c.43C>T | NP_001369730.1:p.Leu15Phe | |
| NM_001382802.1:c.43C>T | NP_001369731.1:p.Leu15Phe | |
| NM_001382803.1:c.43C>T | NP_001369732.1:p.Leu15Phe | |
| NM_001382804.1:c.43C>T | NP_001369733.1:p.Leu15Phe | |
| NM_001382805.1:c.43C>T | NP_001369734.1:p.Leu15Phe | |
| NM_001382806.1:c.43C>T | NP_001369735.1:p.Leu15Phe | |
| NM_004448.4:c.43C>T MANE Select | NP_004439.2:p.Leu15Phe | |
| NR_110535.2:n.218C>T |