Linked Data
ClinVar Variation Id:
1046869
ClinVar RCV Id:
RCV001351485
dbSNP Id:
rs964241858
gnomAD v3:
15-68218601-G-A
gnomAD v4:
15-68218601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68218601G>A , CM000677.2:g.68218601G>A | GRCh38 |
| NC_000015.9:g.68510939G>A , CM000677.1:g.68510939G>A | GRCh37 |
| NC_000015.8:g.66297993G>A | NCBI36 |
| NG_008764.2:g.43611C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.133C>T MANE Select | ENSP00000249806.5:p.Leu45Phe | |
| ENST00000562767.2:c.83+10901C>T | ENSP00000456336.1:n.83+10901C>T | |
| ENST00000563917.2:n.41-4213C>T | ||
| ENST00000565471.6:c.84-8842C>T | ENSP00000457384.1:n.84-8842C>T | |
| ENST00000569336.2:n.42C>T | ||
| ENST00000635747.1:c.*36C>T | ENSP00000490627.1:n.*36C>T | |
| ENST00000636020.1:n.265C>T | ||
| ENST00000636212.1:c.133C>T | ENSP00000489851.1:p.Leu45Phe | |
| ENST00000636314.1:c.84-4213C>T | ENSP00000490295.1:n.84-4213C>T | |
| ENST00000636876.1:c.*153C>T | ENSP00000489950.1:n.*153C>T | |
| ENST00000637054.1:c.133C>T | ENSP00000490807.1:p.Leu45Phe | |
| ENST00000637223.1:c.*36C>T | ENSP00000490010.1:n.*36C>T | |
| ENST00000637329.1:c.44C>T | ||
| ENST00000637450.1:c.84-4213C>T | ENSP00000490204.1:n.84-4213C>T | |
| ENST00000637494.1:c.133C>T | ENSP00000490057.1:p.Leu45Phe | |
| ENST00000637667.1:c.133C>T | ENSP00000489843.1:p.Leu45Phe | |
| ENST00000637823.1:c.59C>T | ||
| ENST00000637888.1:c.133C>T | ENSP00000490546.1:p.Leu45Phe | |
| ENST00000638076.1:c.133C>T | ENSP00000490373.1:p.Leu45Phe | |
| ENST00000638144.1:n.31-4213C>T | ||
| ENST00000249806.9:c.133C>T | ENSP00000249806.5:p.Leu45Phe | |
| ENST00000538696.5:c.229C>T | ENSP00000445770.1:p.Leu77Phe | |
| ENST00000562767.1:c.83+10901C>T | ENSP00000456336.1:n.83+10901C>T | |
| ENST00000564752.1:c.133C>T | ENSP00000457822.1:p.Leu45Phe | |
| ENST00000564846.1:n.565C>T | ||
| ENST00000565471.5:c.84-8842C>T | ENSP00000457384.1:n.84-8842C>T | |
| ENST00000566347.5:c.133C>T | ENSP00000457783.1:p.Leu45Phe | |
| ENST00000567060.5:c.133C>T | ENSP00000454818.1:p.Leu45Phe | |
| ENST00000569336.1:n.219C>T | ||
| NM_017882.2:c.133C>T | NP_060352.1:p.Leu45Phe | |
| XR_931861.1:n.236C>T | ||
| NM_017882.3:c.133C>T MANE Select | NP_060352.1:p.Leu45Phe |