Linked Data
dbSNP Id:
rs2059859544
gnomAD v4:
17-39727747-G-T
MyVariant Identifiers:
chr17:g.37884000G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727747G>T , CM000679.2:g.39727747G>T | GRCh38 |
| NC_000017.10:g.37884000G>T , CM000679.1:g.37884000G>T | GRCh37 |
| NC_000017.9:g.35137526G>T | NCBI36 |
| NG_007503.1:g.44608G>T , LRG_724:g.44608G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3471G>T MANE Select | ENSP00000269571.4:p.Leu1157= | |
| ENST00000269571.9:c.3471G>T | ENSP00000269571.4:p.Leu1157= | |
| ENST00000406381.6:c.3381G>T | ENSP00000385185.2:p.Leu1127= | |
| ENST00000445658.6:c.2643G>T | ENSP00000404047.2:p.Leu881= | |
| ENST00000541774.5:c.3426G>T | ENSP00000446466.1:p.Leu1142= | |
| ENST00000578373.5:c.*3261G>T | ENSP00000463427.1:n.*3261G>T | |
| ENST00000584450.5:c.*50G>T | ENSP00000463714.1:n.*50G>T | |
| ENST00000584601.5:c.3381G>T | ENSP00000462438.1:p.Leu1127= | |
| NM_001005862.2:c.3381G>T , LRG_724t1:c.3381G>T | NP_001005862.1:p.Leu1127= | |
| NM_001289936.1:c.3426G>T , LRG_724t4:c.3426G>T | NP_001276865.1:p.Leu1142= | |
| NM_001289937.1:c.*50G>T | NP_001276866.1:n.*50G>T | |
| NM_004448.3:c.3471G>T , LRG_724t2:c.3471G>T | NP_004439.2:p.Leu1157= | |
| NR_110535.1:n.3795G>T | ||
| XM_024450641.1:c.3609G>T | XP_024306409.1:p.Leu1203= | |
| XM_024450642.1:c.3564G>T | XP_024306410.1:p.Leu1188= | |
| XM_024450643.1:c.3519G>T | XP_024306411.1:p.Leu1173= | |
| NM_001005862.3:c.3381G>T | NP_001005862.1:p.Leu1127= | |
| NM_001289936.2:c.3426G>T | NP_001276865.1:p.Leu1142= | |
| NM_001289937.2:c.*50G>T | NP_001276866.1:n.*50G>T | |
| NM_001382782.1:c.3381G>T | NP_001369711.1:p.Leu1127= | |
| NM_001382783.1:c.3381G>T | NP_001369712.1:p.Leu1127= | |
| NM_001382784.1:c.3588G>T | NP_001369713.1:p.Leu1196= | |
| NM_001382785.1:c.3573G>T | NP_001369714.1:p.Leu1191= | |
| NM_001382786.1:c.3552G>T | NP_001369715.1:p.Leu1184= | |
| NM_001382787.1:c.3546G>T | NP_001369716.1:p.Leu1182= | |
| NM_001382788.1:c.3501G>T | NP_001369717.1:p.Leu1167= | |
| NM_001382789.1:c.3492G>T | NP_001369718.1:p.Leu1164= | |
| NM_001382790.1:c.3468G>T | NP_001369719.1:p.Leu1156= | |
| NM_001382791.1:c.3462G>T | NP_001369720.1:p.Leu1154= | |
| NM_001382792.1:c.3435G>T | NP_001369721.1:p.Leu1145= | |
| NM_001382793.1:c.3429G>T | NP_001369722.1:p.Leu1143= | |
| NM_001382794.1:c.3429G>T | NP_001369723.1:p.Leu1143= | |
| NM_001382795.1:c.3423G>T | NP_001369724.1:p.Leu1141= | |
| NM_001382796.1:c.3384G>T | NP_001369725.1:p.Leu1128= | |
| NM_001382797.1:c.3372G>T | NP_001369726.1:p.Leu1124= | |
| NM_001382798.1:c.3315G>T | NP_001369727.1:p.Leu1105= | |
| NM_001382799.1:c.3291G>T | NP_001369728.1:p.Leu1097= | |
| NM_001382800.1:c.3285G>T | NP_001369729.1:p.Leu1095= | |
| NM_001382801.1:c.3267G>T | NP_001369730.1:p.Leu1089= | |
| NM_001382802.1:c.3213G>T | NP_001369731.1:p.Leu1071= | |
| NM_001382803.1:c.*50G>T | NP_001369732.1:n.*50G>T | |
| NM_001382804.1:c.2643G>T | NP_001369733.1:p.Leu881= | |
| NM_001382805.1:c.2520G>T | NP_001369734.1:p.Leu840= | |
| NM_001382806.1:c.2433G>T | NP_001369735.1:p.Leu811= | |
| NM_004448.4:c.3471G>T MANE Select | NP_004439.2:p.Leu1157= | |
| NR_110535.2:n.3709G>T |