WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
36496
dbSNP Id:
rs61751445
ExAC:
X:153296347 G / A
gnomAD v2:
X-153296347-G-A
gnomAD v3:
X-154030896-G-A
gnomAD v4:
X-154030896-G-A
COSMIC:
COSM6210240
PubMed:
PMID:22277191
ERepo:
CA170409/MONDO:0010726/036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030896G>A , CM000685.2:g.154030896G>A | GRCh38 |
| NC_000023.10:g.153296347G>A , CM000685.1:g.153296347G>A | GRCh37 |
| NC_000023.9:g.152949541G>A | NCBI36 |
| NG_007107.2:g.111232C>T | |
| NG_007107.3:g.111208C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.932C>T MANE Plus Clinical | ENSP00000301948.6:p.Thr311Met | |
| ENST00000453960.7:c.968C>T MANE Select | ENSP00000395535.2:p.Thr323Met | |
| ENST00000637917.1:c.106C>T | ||
| ENST00000303391.10:c.932C>T | ENSP00000301948.6:p.Thr311Met | |
| ENST00000407218.5:c.*304C>T | ENSP00000384865.2:n.*304C>T | |
| ENST00000453960.6:c.968C>T | ENSP00000395535.2:p.Thr323Met | |
| ENST00000619732.4:c.932C>T | ENSP00000480973.1:p.Thr311Met | |
| ENST00000622433.4:c.918C>T | ENSP00000484470.1:p.Asp306= | |
| ENST00000628176.2:c.*304C>T | ENSP00000486978.1:n.*304C>T | |
| NM_001110792.1:c.968C>T | NP_001104262.1:p.Thr323Met | |
| NM_001316337.1:c.653C>T | NP_001303266.1:p.Thr218Met | |
| NM_004992.3:c.932C>T | NP_004983.1:p.Thr311Met | |
| XM_005274681.3:c.932C>T | XP_005274738.1:p.Thr311Met | |
| XM_005274682.3:c.653C>T | XP_005274739.1:p.Thr218Met | |
| XM_005274683.3:c.653C>T | XP_005274740.1:p.Thr218Met | |
| XM_006724819.2:c.263C>T | XP_006724882.1:p.Thr88Met | |
| XM_011531166.1:c.653C>T | XP_011529468.1:p.Thr218Met | |
| XM_006724819.3:c.263C>T | XP_006724882.1:p.Thr88Met | |
| XM_011531166.2:c.653C>T | XP_011529468.1:p.Thr218Met | |
| XM_024452383.1:c.653C>T | XP_024308151.1:p.Thr218Met | |
| XM_024452384.1:c.653C>T | XP_024308152.1:p.Thr218Met | |
| NM_001110792.2:c.968C>T MANE Select | NP_001104262.1:p.Thr323Met | |
| NM_001316337.2:c.653C>T | NP_001303266.1:p.Thr218Met | |
| NM_001369391.2:c.653C>T | NP_001356320.1:p.Thr218Met | |
| NM_001369392.2:c.653C>T | NP_001356321.1:p.Thr218Met | |
| NM_001369393.2:c.653C>T | NP_001356322.1:p.Thr218Met | |
| NM_001369394.1:c.653C>T | NP_001356323.1:p.Thr218Met | |
| NM_001369394.2:c.653C>T | NP_001356323.1:p.Thr218Met | |
| NM_001386137.1:c.263C>T | NP_001373066.1:p.Thr88Met | |
| NM_001386138.1:c.263C>T | NP_001373067.1:p.Thr88Met | |
| NM_001386139.1:c.263C>T | NP_001373068.1:p.Thr88Met | |
| NM_004992.4:c.932C>T MANE Plus Clinical | NP_004983.1:p.Thr311Met |