Linked Data
dbSNP Id:
rs2143238764
gnomAD v4:
17-39727358-C-T
MyVariant Identifiers:
chr17:g.37883611C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727358C>T , CM000679.2:g.39727358C>T | GRCh38 |
| NC_000017.10:g.37883611C>T , CM000679.1:g.37883611C>T | GRCh37 |
| NC_000017.9:g.35137137C>T | NCBI36 |
| NG_007503.1:g.44219C>T , LRG_724:g.44219C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3223C>T MANE Select | ENSP00000269571.4:p.Leu1075= | |
| ENST00000269571.9:c.3223C>T | ENSP00000269571.4:p.Leu1075= | |
| ENST00000406381.6:c.3133C>T | ENSP00000385185.2:p.Leu1045= | |
| ENST00000445658.6:c.2395C>T | ENSP00000404047.2:p.Leu799= | |
| ENST00000541774.5:c.3178C>T | ENSP00000446466.1:p.Leu1060= | |
| ENST00000578373.5:c.*3013C>T | ENSP00000463427.1:n.*3013C>T | |
| ENST00000584450.5:c.3160-331C>T | ENSP00000463714.1:n.3160-331C>T | |
| ENST00000584601.5:c.3133C>T | ENSP00000462438.1:p.Leu1045= | |
| NM_001005862.2:c.3133C>T , LRG_724t1:c.3133C>T | NP_001005862.1:p.Leu1045= | |
| NM_001289936.1:c.3178C>T , LRG_724t4:c.3178C>T | NP_001276865.1:p.Leu1060= | |
| NM_001289937.1:c.3160-331C>T | NP_001276866.1:n.3160-331C>T | |
| NM_004448.3:c.3223C>T , LRG_724t2:c.3223C>T | NP_004439.2:p.Leu1075= | |
| NR_110535.1:n.3547C>T | ||
| XM_024450641.1:c.3361C>T | XP_024306409.1:p.Leu1121= | |
| XM_024450642.1:c.3316C>T | XP_024306410.1:p.Leu1106= | |
| XM_024450643.1:c.3271C>T | XP_024306411.1:p.Leu1091= | |
| NM_001005862.3:c.3133C>T | NP_001005862.1:p.Leu1045= | |
| NM_001289936.2:c.3178C>T | NP_001276865.1:p.Leu1060= | |
| NM_001289937.2:c.3160-331C>T | NP_001276866.1:n.3160-331C>T | |
| NM_001382782.1:c.3133C>T | NP_001369711.1:p.Leu1045= | |
| NM_001382783.1:c.3133C>T | NP_001369712.1:p.Leu1045= | |
| NM_001382784.1:c.3340C>T | NP_001369713.1:p.Leu1114= | |
| NM_001382785.1:c.3325C>T | NP_001369714.1:p.Leu1109= | |
| NM_001382786.1:c.3304C>T | NP_001369715.1:p.Leu1102= | |
| NM_001382787.1:c.3298C>T | NP_001369716.1:p.Leu1100= | |
| NM_001382788.1:c.3253C>T | NP_001369717.1:p.Leu1085= | |
| NM_001382789.1:c.3244C>T | NP_001369718.1:p.Leu1082= | |
| NM_001382790.1:c.3220C>T | NP_001369719.1:p.Leu1074= | |
| NM_001382791.1:c.3214C>T | NP_001369720.1:p.Leu1072= | |
| NM_001382792.1:c.3187C>T | NP_001369721.1:p.Leu1063= | |
| NM_001382793.1:c.3181C>T | NP_001369722.1:p.Leu1061= | |
| NM_001382794.1:c.3181C>T | NP_001369723.1:p.Leu1061= | |
| NM_001382795.1:c.3175C>T | NP_001369724.1:p.Leu1059= | |
| NM_001382796.1:c.3136C>T | NP_001369725.1:p.Leu1046= | |
| NM_001382797.1:c.3124C>T | NP_001369726.1:p.Leu1042= | |
| NM_001382798.1:c.3067C>T | NP_001369727.1:p.Leu1023= | |
| NM_001382799.1:c.3043C>T | NP_001369728.1:p.Leu1015= | |
| NM_001382800.1:c.3037C>T | NP_001369729.1:p.Leu1013= | |
| NM_001382801.1:c.3019C>T | NP_001369730.1:p.Leu1007= | |
| NM_001382802.1:c.2965C>T | NP_001369731.1:p.Leu989= | |
| NM_001382803.1:c.3118-331C>T | NP_001369732.1:n.3118-331C>T | |
| NM_001382804.1:c.2395C>T | NP_001369733.1:p.Leu799= | |
| NM_001382805.1:c.2272C>T | NP_001369734.1:p.Leu758= | |
| NM_001382806.1:c.2185C>T | NP_001369735.1:p.Leu729= | |
| NM_004448.4:c.3223C>T MANE Select | NP_004439.2:p.Leu1075= | |
| NR_110535.2:n.3461C>T |