Linked Data
ClinVar Variation Id:
386725
dbSNP Id:
rs782239416
ExAC:
X:153296438 C / T
gnomAD v2:
X-153296438-C-T
gnomAD v3:
X-154030987-C-T
gnomAD v4:
X-154030987-C-T
ERepo:
CA10558543/MONDO:0010726/036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030987C>T , CM000685.2:g.154030987C>T | GRCh38 |
| NC_000023.10:g.153296438C>T , CM000685.1:g.153296438C>T | GRCh37 |
| NC_000023.9:g.152949632C>T | NCBI36 |
| NG_007107.2:g.111141G>A | |
| NG_007107.3:g.111117G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.841G>A MANE Plus Clinical | ENSP00000301948.6:p.Ala281Thr | |
| ENST00000453960.7:c.877G>A MANE Select | ENSP00000395535.2:p.Ala293Thr | |
| ENST00000637917.1:c.66-51G>A | ||
| ENST00000303391.10:c.841G>A | ENSP00000301948.6:p.Ala281Thr | |
| ENST00000407218.5:c.*213G>A | ENSP00000384865.2:n.*213G>A | |
| ENST00000453960.6:c.877G>A | ENSP00000395535.2:p.Ala293Thr | |
| ENST00000619732.4:c.841G>A | ENSP00000480973.1:p.Ala281Thr | |
| ENST00000622433.4:c.829G>A | ENSP00000484470.1:p.Ala277Thr | |
| ENST00000628176.2:c.*213G>A | ENSP00000486978.1:n.*213G>A | |
| NM_001110792.1:c.877G>A | NP_001104262.1:p.Ala293Thr | |
| NM_001316337.1:c.562G>A | NP_001303266.1:p.Ala188Thr | |
| NM_004992.3:c.841G>A | NP_004983.1:p.Ala281Thr | |
| XM_005274681.3:c.841G>A | XP_005274738.1:p.Ala281Thr | |
| XM_005274682.3:c.562G>A | XP_005274739.1:p.Ala188Thr | |
| XM_005274683.3:c.562G>A | XP_005274740.1:p.Ala188Thr | |
| XM_006724819.2:c.172G>A | XP_006724882.1:p.Ala58Thr | |
| XM_011531166.1:c.562G>A | XP_011529468.1:p.Ala188Thr | |
| XM_006724819.3:c.172G>A | XP_006724882.1:p.Ala58Thr | |
| XM_011531166.2:c.562G>A | XP_011529468.1:p.Ala188Thr | |
| XM_024452383.1:c.562G>A | XP_024308151.1:p.Ala188Thr | |
| XM_024452384.1:c.562G>A | XP_024308152.1:p.Ala188Thr | |
| NM_001110792.2:c.877G>A MANE Select | NP_001104262.1:p.Ala293Thr | |
| NM_001316337.2:c.562G>A | NP_001303266.1:p.Ala188Thr | |
| NM_001369391.2:c.562G>A | NP_001356320.1:p.Ala188Thr | |
| NM_001369392.2:c.562G>A | NP_001356321.1:p.Ala188Thr | |
| NM_001369393.2:c.562G>A | NP_001356322.1:p.Ala188Thr | |
| NM_001369394.1:c.562G>A | NP_001356323.1:p.Ala188Thr | |
| NM_001369394.2:c.562G>A | NP_001356323.1:p.Ala188Thr | |
| NM_001386137.1:c.172G>A | NP_001373066.1:p.Ala58Thr | |
| NM_001386138.1:c.172G>A | NP_001373067.1:p.Ala58Thr | |
| NM_001386139.1:c.172G>A | NP_001373068.1:p.Ala58Thr | |
| NM_004992.4:c.841G>A MANE Plus Clinical | NP_004983.1:p.Ala281Thr |