Linked Data
ClinVar Variation Id:
415268
ClinVar RCV Id:
RCV001403690
dbSNP Id:
rs377409217
ExAC:
X:70349687 G / T
gnomAD v2:
X-70349687-G-T
gnomAD v4:
X-71129837-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71129837G>T , CM000685.2:g.71129837G>T | GRCh38 |
| NC_000023.10:g.70349687G>T , CM000685.1:g.70349687G>T | GRCh37 |
| NC_000023.9:g.70266412G>T | NCBI36 |
| NG_012808.1:g.16282G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.3729G>T | ENSP00000333125.8:p.Leu1243= | |
| ENST00000374102.6:c.3849G>T | ENSP00000363215.2:p.Leu1283= | |
| ENST00000489199.2:c.1003G>T | ||
| ENST00000686548.1:c.*3745G>T | ENSP00000509582.1:n.*3745G>T | |
| ENST00000687161.1:n.564G>T | ||
| ENST00000687382.1:c.3849G>T | ENSP00000510724.1:p.Leu1283= | |
| ENST00000688079.1:n.1844G>T | ||
| ENST00000688622.1:n.536G>T | ||
| ENST00000688663.1:c.*770G>T | ENSP00000509348.1:n.*770G>T | |
| ENST00000689768.1:n.2459G>T | ||
| ENST00000690145.1:c.3849G>T | ENSP00000508818.1:p.Leu1283= | |
| ENST00000690242.1:c.3849G>T | ENSP00000510090.1:p.Leu1283= | |
| ENST00000690250.1:n.1339G>T | ||
| ENST00000690690.1:c.374G>T | ||
| ENST00000690828.1:n.4105G>T | ||
| ENST00000691113.1:c.2328G>T | ENSP00000509755.1:n.2328G>T | |
| ENST00000691283.1:c.374G>T | ||
| ENST00000691426.1:n.2978G>T | ||
| ENST00000691468.1:c.3798G>T | ENSP00000509011.1:p.Leu1266= | |
| ENST00000692304.1:c.3849G>T | ENSP00000508427.1:p.Leu1283= | |
| ENST00000692893.1:n.1158G>T | ||
| ENST00000693324.1:c.3813G>T | ENSP00000508643.1:p.Leu1271= | |
| ENST00000693391.1:c.1794G>T | ENSP00000509563.1:p.Leu598= | |
| ENST00000374080.8:c.3849G>T MANE Select | ENSP00000363193.3:p.Leu1283= | |
| ENST00000333646.10:c.3390G>T | ENSP00000333125.7:p.Leu1130= | |
| ENST00000374080.7:c.3849G>T | ENSP00000363193.3:p.Leu1283= | |
| ENST00000374102.5:c.3849G>T | ENSP00000363215.1:p.Leu1283= | |
| ENST00000460771.1:n.305G>T | ||
| NM_005120.2:c.3849G>T | NP_005111.2:p.Leu1283= | |
| XM_005262317.1:c.3849G>T | XP_005262374.1:p.Leu1283= | |
| XM_005262319.1:c.3849G>T | XP_005262376.1:p.Leu1283= | |
| NM_005120.3:c.3849G>T MANE Select | NP_005111.2:p.Leu1283= |