Linked Data
dbSNP Id:
rs760679991
gnomAD v4:
17-39727726-T-A
MyVariant Identifiers:
chr17:g.37883979T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727726T>A , CM000679.2:g.39727726T>A | GRCh38 |
| NC_000017.10:g.37883979T>A , CM000679.1:g.37883979T>A | GRCh37 |
| NC_000017.9:g.35137505T>A | NCBI36 |
| NG_007503.1:g.44587T>A , LRG_724:g.44587T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3450T>A MANE Select | ENSP00000269571.4:p.Pro1150= | |
| ENST00000269571.9:c.3450T>A | ENSP00000269571.4:p.Pro1150= | |
| ENST00000406381.6:c.3360T>A | ENSP00000385185.2:p.Pro1120= | |
| ENST00000445658.6:c.2622T>A | ENSP00000404047.2:p.Pro874= | |
| ENST00000541774.5:c.3405T>A | ENSP00000446466.1:p.Pro1135= | |
| ENST00000578373.5:c.*3240T>A | ENSP00000463427.1:n.*3240T>A | |
| ENST00000584450.5:c.*29T>A | ENSP00000463714.1:n.*29T>A | |
| ENST00000584601.5:c.3360T>A | ENSP00000462438.1:p.Pro1120= | |
| NM_001005862.2:c.3360T>A , LRG_724t1:c.3360T>A | NP_001005862.1:p.Pro1120= | |
| NM_001289936.1:c.3405T>A , LRG_724t4:c.3405T>A | NP_001276865.1:p.Pro1135= | |
| NM_001289937.1:c.*29T>A | NP_001276866.1:n.*29T>A | |
| NM_004448.3:c.3450T>A , LRG_724t2:c.3450T>A | NP_004439.2:p.Pro1150= | |
| NR_110535.1:n.3774T>A | ||
| XM_024450641.1:c.3588T>A | XP_024306409.1:p.Pro1196= | |
| XM_024450642.1:c.3543T>A | XP_024306410.1:p.Pro1181= | |
| XM_024450643.1:c.3498T>A | XP_024306411.1:p.Pro1166= | |
| NM_001005862.3:c.3360T>A | NP_001005862.1:p.Pro1120= | |
| NM_001289936.2:c.3405T>A | NP_001276865.1:p.Pro1135= | |
| NM_001289937.2:c.*29T>A | NP_001276866.1:n.*29T>A | |
| NM_001382782.1:c.3360T>A | NP_001369711.1:p.Pro1120= | |
| NM_001382783.1:c.3360T>A | NP_001369712.1:p.Pro1120= | |
| NM_001382784.1:c.3567T>A | NP_001369713.1:p.Pro1189= | |
| NM_001382785.1:c.3552T>A | NP_001369714.1:p.Pro1184= | |
| NM_001382786.1:c.3531T>A | NP_001369715.1:p.Pro1177= | |
| NM_001382787.1:c.3525T>A | NP_001369716.1:p.Pro1175= | |
| NM_001382788.1:c.3480T>A | NP_001369717.1:p.Pro1160= | |
| NM_001382789.1:c.3471T>A | NP_001369718.1:p.Pro1157= | |
| NM_001382790.1:c.3447T>A | NP_001369719.1:p.Pro1149= | |
| NM_001382791.1:c.3441T>A | NP_001369720.1:p.Pro1147= | |
| NM_001382792.1:c.3414T>A | NP_001369721.1:p.Pro1138= | |
| NM_001382793.1:c.3408T>A | NP_001369722.1:p.Pro1136= | |
| NM_001382794.1:c.3408T>A | NP_001369723.1:p.Pro1136= | |
| NM_001382795.1:c.3402T>A | NP_001369724.1:p.Pro1134= | |
| NM_001382796.1:c.3363T>A | NP_001369725.1:p.Pro1121= | |
| NM_001382797.1:c.3351T>A | NP_001369726.1:p.Pro1117= | |
| NM_001382798.1:c.3294T>A | NP_001369727.1:p.Pro1098= | |
| NM_001382799.1:c.3270T>A | NP_001369728.1:p.Pro1090= | |
| NM_001382800.1:c.3264T>A | NP_001369729.1:p.Pro1088= | |
| NM_001382801.1:c.3246T>A | NP_001369730.1:p.Pro1082= | |
| NM_001382802.1:c.3192T>A | NP_001369731.1:p.Pro1064= | |
| NM_001382803.1:c.*29T>A | NP_001369732.1:n.*29T>A | |
| NM_001382804.1:c.2622T>A | NP_001369733.1:p.Pro874= | |
| NM_001382805.1:c.2499T>A | NP_001369734.1:p.Pro833= | |
| NM_001382806.1:c.2412T>A | NP_001369735.1:p.Pro804= | |
| NM_004448.4:c.3450T>A MANE Select | NP_004439.2:p.Pro1150= | |
| NR_110535.2:n.3688T>A |