Linked Data
ClinVar Variation Id:
36492
dbSNP Id:
rs193922678
gnomAD v2:
X-153295838-C-T
gnomAD v3:
X-154030387-C-T
gnomAD v4:
X-154030387-C-T
PubMed:
PMID:22277191
ERepo:
CA208886/MONDO:0010726/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030387C>T , CM000685.2:g.154030387C>T | GRCh38 |
| NC_000023.10:g.153295838C>T , CM000685.1:g.153295838C>T | GRCh37 |
| NC_000023.9:g.152949032C>T | NCBI36 |
| NG_007107.2:g.111741G>A | |
| NG_007107.3:g.111717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.1441G>A MANE Plus Clinical | ENSP00000301948.6:p.Val481Met | |
| ENST00000453960.7:c.1477G>A MANE Select | ENSP00000395535.2:p.Val493Met | |
| ENST00000303391.10:c.1441G>A | ENSP00000301948.6:p.Val481Met | |
| ENST00000453960.6:c.1477G>A | ENSP00000395535.2:p.Val493Met | |
| ENST00000619732.4:c.1441G>A | ENSP00000480973.1:p.Val481Met | |
| ENST00000628176.2:c.*813G>A | ENSP00000486978.1:n.*813G>A | |
| NM_001110792.1:c.1477G>A | NP_001104262.1:p.Val493Met | |
| NM_001316337.1:c.1162G>A | NP_001303266.1:p.Val388Met | |
| NM_004992.3:c.1441G>A | NP_004983.1:p.Val481Met | |
| XM_005274681.3:c.1441G>A | XP_005274738.1:p.Val481Met | |
| XM_005274682.3:c.1162G>A | XP_005274739.1:p.Val388Met | |
| XM_005274683.3:c.1162G>A | XP_005274740.1:p.Val388Met | |
| XM_006724819.2:c.772G>A | XP_006724882.1:p.Val258Met | |
| XM_011531166.1:c.1162G>A | XP_011529468.1:p.Val388Met | |
| XM_006724819.3:c.772G>A | XP_006724882.1:p.Val258Met | |
| XM_011531166.2:c.1162G>A | XP_011529468.1:p.Val388Met | |
| XM_024452383.1:c.1162G>A | XP_024308151.1:p.Val388Met | |
| XM_024452384.1:c.1162G>A | XP_024308152.1:p.Val388Met | |
| NM_001110792.2:c.1477G>A MANE Select | NP_001104262.1:p.Val493Met | |
| NM_001316337.2:c.1162G>A | NP_001303266.1:p.Val388Met | |
| NM_001369391.2:c.1162G>A | NP_001356320.1:p.Val388Met | |
| NM_001369392.2:c.1162G>A | NP_001356321.1:p.Val388Met | |
| NM_001369393.2:c.1162G>A | NP_001356322.1:p.Val388Met | |
| NM_001369394.1:c.1162G>A | NP_001356323.1:p.Val388Met | |
| NM_001369394.2:c.1162G>A | NP_001356323.1:p.Val388Met | |
| NM_001386137.1:c.772G>A | NP_001373066.1:p.Val258Met | |
| NM_001386138.1:c.772G>A | NP_001373067.1:p.Val258Met | |
| NM_001386139.1:c.772G>A | NP_001373068.1:p.Val258Met | |
| NM_004992.4:c.1441G>A MANE Plus Clinical | NP_004983.1:p.Val481Met |