Linked Data
dbSNP Id:
rs2143259520
gnomAD v4:
17-39727528-G-A
MyVariant Identifiers:
chr17:g.37883781G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727528G>A , CM000679.2:g.39727528G>A | GRCh38 |
| NC_000017.10:g.37883781G>A , CM000679.1:g.37883781G>A | GRCh37 |
| NC_000017.9:g.35137307G>A | NCBI36 |
| NG_007503.1:g.44389G>A , LRG_724:g.44389G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3393G>A MANE Select | ENSP00000269571.4:p.Leu1131= | |
| ENST00000269571.9:c.3393G>A | ENSP00000269571.4:p.Leu1131= | |
| ENST00000406381.6:c.3303G>A | ENSP00000385185.2:p.Leu1101= | |
| ENST00000445658.6:c.2565G>A | ENSP00000404047.2:p.Leu855= | |
| ENST00000541774.5:c.3348G>A | ENSP00000446466.1:p.Leu1116= | |
| ENST00000578373.5:c.*3183G>A | ENSP00000463427.1:n.*3183G>A | |
| ENST00000584450.5:c.3160-161G>A | ENSP00000463714.1:n.3160-161G>A | |
| ENST00000584601.5:c.3303G>A | ENSP00000462438.1:p.Leu1101= | |
| NM_001005862.2:c.3303G>A , LRG_724t1:c.3303G>A | NP_001005862.1:p.Leu1101= | |
| NM_001289936.1:c.3348G>A , LRG_724t4:c.3348G>A | NP_001276865.1:p.Leu1116= | |
| NM_001289937.1:c.3160-161G>A | NP_001276866.1:n.3160-161G>A | |
| NM_004448.3:c.3393G>A , LRG_724t2:c.3393G>A | NP_004439.2:p.Leu1131= | |
| NR_110535.1:n.3717G>A | ||
| XM_024450641.1:c.3531G>A | XP_024306409.1:p.Leu1177= | |
| XM_024450642.1:c.3486G>A | XP_024306410.1:p.Leu1162= | |
| XM_024450643.1:c.3441G>A | XP_024306411.1:p.Leu1147= | |
| NM_001005862.3:c.3303G>A | NP_001005862.1:p.Leu1101= | |
| NM_001289936.2:c.3348G>A | NP_001276865.1:p.Leu1116= | |
| NM_001289937.2:c.3160-161G>A | NP_001276866.1:n.3160-161G>A | |
| NM_001382782.1:c.3303G>A | NP_001369711.1:p.Leu1101= | |
| NM_001382783.1:c.3303G>A | NP_001369712.1:p.Leu1101= | |
| NM_001382784.1:c.3510G>A | NP_001369713.1:p.Leu1170= | |
| NM_001382785.1:c.3495G>A | NP_001369714.1:p.Leu1165= | |
| NM_001382786.1:c.3474G>A | NP_001369715.1:p.Leu1158= | |
| NM_001382787.1:c.3468G>A | NP_001369716.1:p.Leu1156= | |
| NM_001382788.1:c.3423G>A | NP_001369717.1:p.Leu1141= | |
| NM_001382789.1:c.3414G>A | NP_001369718.1:p.Leu1138= | |
| NM_001382790.1:c.3390G>A | NP_001369719.1:p.Leu1130= | |
| NM_001382791.1:c.3384G>A | NP_001369720.1:p.Leu1128= | |
| NM_001382792.1:c.3357G>A | NP_001369721.1:p.Leu1119= | |
| NM_001382793.1:c.3351G>A | NP_001369722.1:p.Leu1117= | |
| NM_001382794.1:c.3351G>A | NP_001369723.1:p.Leu1117= | |
| NM_001382795.1:c.3345G>A | NP_001369724.1:p.Leu1115= | |
| NM_001382796.1:c.3306G>A | NP_001369725.1:p.Leu1102= | |
| NM_001382797.1:c.3294G>A | NP_001369726.1:p.Leu1098= | |
| NM_001382798.1:c.3237G>A | NP_001369727.1:p.Leu1079= | |
| NM_001382799.1:c.3213G>A | NP_001369728.1:p.Leu1071= | |
| NM_001382800.1:c.3207G>A | NP_001369729.1:p.Leu1069= | |
| NM_001382801.1:c.3189G>A | NP_001369730.1:p.Leu1063= | |
| NM_001382802.1:c.3135G>A | NP_001369731.1:p.Leu1045= | |
| NM_001382803.1:c.3118-161G>A | NP_001369732.1:n.3118-161G>A | |
| NM_001382804.1:c.2565G>A | NP_001369733.1:p.Leu855= | |
| NM_001382805.1:c.2442G>A | NP_001369734.1:p.Leu814= | |
| NM_001382806.1:c.2355G>A | NP_001369735.1:p.Leu785= | |
| NM_004448.4:c.3393G>A MANE Select | NP_004439.2:p.Leu1131= | |
| NR_110535.2:n.3631G>A |