Linked Data
ClinVar Variation Id:
215328
dbSNP Id:
rs863224249
gnomAD v2:
22-50967701-G-A
gnomAD v3:
22-50529272-G-A
gnomAD v4:
22-50529272-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50529272G>A , CM000684.2:g.50529272G>A | GRCh38 |
| NC_000022.10:g.50967701G>A , CM000684.1:g.50967701G>A | GRCh37 |
| NC_000022.9:g.49314567G>A | NCBI36 |
| NG_011860.1:g.5814C>T , LRG_727:g.5814C>T | |
| NG_016235.1:g.2168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252029.8:c.281C>T MANE Select | ENSP00000252029.3:p.Ala94Val | |
| ENST00000395680.6:c.281C>T | ENSP00000379037.1:p.Ala94Val | |
| ENST00000395681.6:c.281C>T | ENSP00000379038.1:p.Ala94Val | |
| ENST00000650719.1:c.281C>T | ENSP00000498276.1:p.Ala94Val | |
| ENST00000651095.1:n.420C>T | ||
| ENST00000651196.1:c.281C>T | ENSP00000499096.1:p.Ala94Val | |
| ENST00000651401.1:c.-1+632C>T | ENSP00000499115.1:n.-1+632C>T | |
| ENST00000651906.1:n.400C>T | ||
| ENST00000652237.1:n.557C>T | ||
| ENST00000652352.1:c.29C>T | ENSP00000498579.1:p.Ala10Val | |
| ENST00000252029.7:c.281C>T | ENSP00000252029.3:p.Ala94Val | |
| ENST00000395678.7:c.281C>T | ENSP00000379036.3:p.Ala94Val | |
| ENST00000395680.5:c.281C>T | ENSP00000379037.1:p.Ala94Val | |
| ENST00000395681.5:c.281C>T | ENSP00000379038.1:p.Ala94Val | |
| ENST00000425169.1:c.281C>T | ENSP00000395875.1:p.Ala94Val | |
| ENST00000476284.1:n.406C>T | ||
| ENST00000487162.1:n.569C>T | ||
| ENST00000487577.5:n.568C>T | ||
| NM_001113755.2:c.281C>T | NP_001107227.1:p.Ala94Val | |
| NM_001113756.2:c.281C>T | NP_001107228.1:p.Ala94Val | |
| NM_001257988.1:c.281C>T , LRG_727t1:c.281C>T | NP_001244917.1:p.Ala94Val | |
| NM_001257989.1:c.281C>T , LRG_727t2:c.281C>T | NP_001244918.1:p.Ala94Val | |
| NM_001953.4:c.281C>T | NP_001944.1:p.Ala94Val | |
| NM_001113755.3:c.281C>T | NP_001107227.1:p.Ala94Val | |
| NM_001113756.3:c.281C>T | NP_001107228.1:p.Ala94Val | |
| NM_001953.5:c.281C>T MANE Select | NP_001944.1:p.Ala94Val |