Linked Data
ClinVar Variation Id:
68097
ClinVar RCV Id:
RCV000058913
dbSNP Id:
rs154774637
gnomAD v2:
15-68500702-A-T
gnomAD v4:
15-68208364-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208364A>T , CM000677.2:g.68208364A>T | GRCh38 |
| NC_000015.9:g.68500702A>T , CM000677.1:g.68500702A>T | GRCh37 |
| NC_000015.8:g.66287756A>T | NCBI36 |
| NG_008764.2:g.53848T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.712T>A MANE Select | ENSP00000249806.5:p.Phe238Ile | |
| ENST00000562767.2:c.84-10736T>A | ENSP00000456336.1:n.84-10736T>A | |
| ENST00000563917.2:n.554T>A | ||
| ENST00000565471.6:c.253T>A | ENSP00000457384.1:p.Phe85Ile | |
| ENST00000635747.1:c.*615T>A | ENSP00000490627.1:n.*615T>A | |
| ENST00000636212.1:c.*382T>A | ENSP00000489851.1:n.*382T>A | |
| ENST00000636674.1:n.1814T>A | ||
| ENST00000636964.1:n.2240T>A | ||
| ENST00000637054.1:c.198+10172T>A | ENSP00000490807.1:n.198+10172T>A | |
| ENST00000637329.1:c.681T>A | ||
| ENST00000637450.1:c.*366T>A | ENSP00000490204.1:n.*366T>A | |
| ENST00000637494.1:c.424T>A | ENSP00000490057.1:p.Phe142Ile | |
| ENST00000637667.1:c.613T>A | ENSP00000489843.1:p.Phe205Ile | |
| ENST00000637823.1:c.537T>A | ||
| ENST00000637888.1:c.198+10172T>A | ENSP00000490546.1:n.198+10172T>A | |
| ENST00000638076.1:c.*315T>A | ENSP00000490373.1:n.*315T>A | |
| ENST00000638144.1:n.355T>A | ||
| ENST00000646164.1:c.39-8683T>A | ||
| ENST00000249806.9:c.712T>A | ENSP00000249806.5:p.Phe238Ile | |
| ENST00000538696.5:c.808T>A | ENSP00000445770.1:p.Phe270Ile | |
| ENST00000562767.1:c.84-10736T>A | ENSP00000456336.1:n.84-10736T>A | |
| ENST00000564752.1:c.*96T>A | ENSP00000457822.1:n.*96T>A | |
| ENST00000565471.5:c.253T>A | ENSP00000457384.1:p.Phe85Ile | |
| ENST00000566347.5:c.523T>A | ENSP00000457783.1:p.Phe175Ile | |
| ENST00000567060.5:c.*110T>A | ENSP00000454818.1:n.*110T>A | |
| NM_017882.2:c.712T>A | NP_060352.1:p.Phe238Ile | |
| NM_017882.3:c.712T>A MANE Select | NP_060352.1:p.Phe238Ile |