Linked Data
ClinVar Variation Id:
516358
dbSNP Id:
rs762466624
ExAC:
X:70356818 A / C
gnomAD v2:
X-70356818-A-C
gnomAD v3:
X-71136968-A-C
gnomAD v4:
X-71136968-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71136968A>C , CM000685.2:g.71136968A>C | GRCh38 |
| NC_000023.10:g.70356818A>C , CM000685.1:g.70356818A>C | GRCh37 |
| NC_000023.9:g.70273543A>C | NCBI36 |
| NG_012808.1:g.23413A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.5370A>C | ENSP00000333125.8:p.Thr1790= | |
| ENST00000374102.6:c.5490A>C | ENSP00000363215.2:p.Thr1830= | |
| ENST00000444034.2:c.465A>C | ENSP00000404373.2:p.Thr155= | |
| ENST00000685082.1:n.90A>C | ||
| ENST00000685182.1:n.2293A>C | ||
| ENST00000686169.1:n.1867A>C | ||
| ENST00000686548.1:c.*5386A>C | ENSP00000509582.1:n.*5386A>C | |
| ENST00000687161.1:n.2205A>C | ||
| ENST00000687382.1:c.5490A>C | ENSP00000510724.1:p.Thr1830= | |
| ENST00000687542.1:n.25A>C | ||
| ENST00000687701.1:n.2240A>C | ||
| ENST00000688079.1:n.3485A>C | ||
| ENST00000688508.1:n.1041A>C | ||
| ENST00000688663.1:c.*2411A>C | ENSP00000509348.1:n.*2411A>C | |
| ENST00000688774.1:c.465A>C | ENSP00000508823.1:p.Thr155= | |
| ENST00000688881.1:n.2144A>C | ||
| ENST00000688993.1:n.1861A>C | ||
| ENST00000689768.1:n.4100A>C | ||
| ENST00000690145.1:c.5490A>C | ENSP00000508818.1:p.Thr1830= | |
| ENST00000690242.1:c.5490A>C | ENSP00000510090.1:p.Thr1830= | |
| ENST00000690250.1:n.3159A>C | ||
| ENST00000690807.1:c.465A>C | ENSP00000510476.1:p.Thr155= | |
| ENST00000690828.1:n.5746A>C | ||
| ENST00000691113.1:c.3969A>C | ENSP00000509755.1:n.3969A>C | |
| ENST00000691426.1:n.4789A>C | ||
| ENST00000691468.1:c.5439A>C | ENSP00000509011.1:p.Thr1813= | |
| ENST00000691909.1:n.2210A>C | ||
| ENST00000692304.1:c.5490A>C | ENSP00000508427.1:p.Thr1830= | |
| ENST00000692893.1:n.2799A>C | ||
| ENST00000692964.1:n.2324A>C | ||
| ENST00000693182.1:n.194A>C | ||
| ENST00000693324.1:c.5454A>C | ENSP00000508643.1:p.Thr1818= | |
| ENST00000693391.1:c.3435A>C | ENSP00000509563.1:p.Thr1145= | |
| ENST00000374080.8:c.5490A>C MANE Select | ENSP00000363193.3:p.Thr1830= | |
| ENST00000333646.10:c.5031A>C | ENSP00000333125.7:p.Thr1677= | |
| ENST00000374080.7:c.5490A>C | ENSP00000363193.3:p.Thr1830= | |
| ENST00000374102.5:c.5490A>C | ENSP00000363215.1:p.Thr1830= | |
| ENST00000444034.1:c.152A>C | ||
| NM_005120.2:c.5490A>C | NP_005111.2:p.Thr1830= | |
| XM_005262317.1:c.5490A>C | XP_005262374.1:p.Thr1830= | |
| XM_005262319.1:c.5490A>C | XP_005262376.1:p.Thr1830= | |
| NM_005120.3:c.5490A>C MANE Select | NP_005111.2:p.Thr1830= |