Linked Data
ClinVar Variation Id:
68234
dbSNP Id:
rs148695964
ExAC:
X:153780386 G / A
gnomAD v2:
X-153780386-G-A
gnomAD v3:
X-154552171-G-A
gnomAD v4:
X-154552171-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154552171G>A , CM000685.2:g.154552171G>A | GRCh38 |
| NC_000023.10:g.153780386G>A , CM000685.1:g.153780386G>A | GRCh37 |
| NC_000023.9:g.153433580G>A | NCBI36 |
| NG_009015.2:g.402C>T | |
| NG_009896.1:g.14928G>A , LRG_70:g.14928G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413620.6:c.133G>A | ENSP00000398579.2:p.Glu45Lys | |
| ENST00000422680.6:c.169G>A | ENSP00000390368.3:p.Glu57Lys | |
| ENST00000440286.6:c.169G>A | ENSP00000394934.2:p.Glu57Lys | |
| ENST00000445622.6:c.169G>A | ENSP00000395205.2:p.Glu57Lys | |
| ENST00000492469.3:c.169G>A | ENSP00000484275.2:p.Glu57Lys | |
| ENST00000615186.5:c.-87-4122G>A | ENSP00000479144.2:n.-87-4122G>A | |
| ENST00000686378.1:c.169G>A | ENSP00000509444.1:p.Glu57Lys | |
| ENST00000686774.1:c.169G>A | ENSP00000510218.1:p.Glu57Lys | |
| ENST00000687445.1:n.544G>A | ||
| ENST00000689906.1:c.169G>A | ENSP00000508630.1:p.Glu57Lys | |
| ENST00000692816.1:n.544G>A | ||
| ENST00000692948.1:c.169G>A | ENSP00000508773.1:p.Glu57Lys | |
| ENST00000693029.1:n.544G>A | ||
| ENST00000594239.6:c.169G>A MANE Select | ENSP00000471166.1:p.Glu57Lys | |
| ENST00000413620.5:c.133G>A | ENSP00000398579.1:p.Glu45Lys | |
| ENST00000422680.5:c.169G>A | ENSP00000390368.2:p.Glu57Lys | |
| ENST00000440286.5:c.169G>A | ENSP00000394934.1:p.Glu57Lys | |
| ENST00000445622.5:c.169G>A | ENSP00000395205.1:p.Glu57Lys | |
| ENST00000492469.2:c.1G>A | ENSP00000484275.1:p.Glu1Lys | |
| ENST00000594239.5:c.169G>A | ENSP00000471166.1:p.Glu57Lys | |
| ENST00000611071.4:c.169G>A | ENSP00000479662.1:p.Glu57Lys | |
| ENST00000611176.4:c.169G>A | ENSP00000478616.1:p.Glu57Lys | |
| ENST00000612051.1:c.*161G>A | ENSP00000480431.1:n.*161G>A | |
| ENST00000615186.4:c.-87-4122G>A | ENSP00000479144.1:n.-87-4122G>A | |
| ENST00000615874.4:c.169G>A | ENSP00000483381.1:p.Glu57Lys | |
| ENST00000617207.4:c.169G>A | ENSP00000484023.1:p.Glu57Lys | |
| ENST00000617838.1:n.181G>A | ||
| ENST00000618670.4:c.373G>A | ENSP00000483825.1:p.Glu125Lys | |
| ENST00000619941.4:c.169G>A | ENSP00000478979.1:p.Glu57Lys | |
| NM_001099856.3:c.373G>A | NP_001093326.2:p.Glu125Lys | |
| NM_001099857.2:c.169G>A | NP_001093327.1:p.Glu57Lys | |
| NM_001145255.2:c.169G>A | NP_001138727.1:p.Glu57Lys | |
| NM_003639.4:c.169G>A | NP_003630.1:p.Glu57Lys | |
| XM_005274760.3:c.373G>A | XP_005274817.1:p.Glu125Lys | |
| XM_005274761.3:c.373G>A | XP_005274818.1:p.Glu125Lys | |
| XM_005274764.3:c.169G>A | XP_005274821.1:p.Glu57Lys | |
| XM_011531203.1:c.373G>A | XP_011529505.1:p.Glu125Lys | |
| XM_011531204.1:c.169G>A | XP_011529506.1:p.Glu57Lys | |
| XM_011531205.1:c.169G>A | XP_011529507.1:p.Glu57Lys | |
| XM_011531206.1:c.373G>A | XP_011529508.1:p.Glu125Lys | |
| XM_011531207.1:c.373G>A | XP_011529509.1:p.Glu125Lys | |
| NM_001099856.4:c.373G>A | NP_001093326.2:p.Glu125Lys | |
| NM_001321396.1:c.169G>A | NP_001308325.1:p.Glu57Lys | |
| NM_001321397.1:c.169G>A | NP_001308326.1:p.Glu57Lys | |
| NM_001099856.6:c.373G>A | NP_001093326.2:p.Glu125Lys | |
| NM_001099857.4:c.169G>A | NP_001093327.1:p.Glu57Lys | |
| NM_001145255.4:c.169G>A | NP_001138727.1:p.Glu57Lys | |
| NM_001321396.3:c.169G>A | NP_001308325.1:p.Glu57Lys | |
| NM_001321397.3:c.169G>A | NP_001308326.1:p.Glu57Lys | |
| NM_001377312.1:c.169G>A | NP_001364241.1:p.Glu57Lys | |
| NM_001377313.1:c.169G>A | NP_001364242.1:p.Glu57Lys | |
| NM_001377314.1:c.169G>A | NP_001364243.1:p.Glu57Lys | |
| NM_001377315.1:c.169G>A | NP_001364244.1:p.Glu57Lys | |
| NR_165197.1:n.310G>A | ||
| NM_001099857.5:c.169G>A MANE Select | NP_001093327.1:p.Glu57Lys |