Linked Data
ClinVar Variation Id:
658763
ClinVar RCV Id:
RCV000815648
dbSNP Id:
rs764670832
gnomAD v2:
15-68502081-G-A
gnomAD v4:
15-68209743-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68209743G>A , CM000677.2:g.68209743G>A | GRCh38 |
| NC_000015.9:g.68502081G>A , CM000677.1:g.68502081G>A | GRCh37 |
| NC_000015.8:g.66289135G>A | NCBI36 |
| NG_008764.2:g.52469C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.559C>T MANE Select | ENSP00000249806.5:p.Leu187Phe | |
| ENST00000562767.2:c.84-12115C>T | ENSP00000456336.1:n.84-12115C>T | |
| ENST00000563917.2:n.401C>T | ||
| ENST00000565471.6:c.100C>T | ENSP00000457384.1:p.Leu34Phe | |
| ENST00000635747.1:c.*462C>T | ENSP00000490627.1:n.*462C>T | |
| ENST00000636212.1:c.*229C>T | ENSP00000489851.1:n.*229C>T | |
| ENST00000636314.1:c.255C>T | ENSP00000490295.1:p.Ser85= | |
| ENST00000636674.1:n.1661C>T | ||
| ENST00000636964.1:n.2087C>T | ||
| ENST00000637054.1:c.198+8793C>T | ENSP00000490807.1:n.198+8793C>T | |
| ENST00000637223.1:c.*273C>T | ENSP00000490010.1:n.*273C>T | |
| ENST00000637329.1:c.528C>T | ||
| ENST00000637450.1:c.*213C>T | ENSP00000490204.1:n.*213C>T | |
| ENST00000637494.1:c.271C>T | ENSP00000490057.1:p.Leu91Phe | |
| ENST00000637667.1:c.460C>T | ENSP00000489843.1:p.Leu154Phe | |
| ENST00000637823.1:c.384C>T | ||
| ENST00000637888.1:c.198+8793C>T | ENSP00000490546.1:n.198+8793C>T | |
| ENST00000638076.1:c.*162C>T | ENSP00000490373.1:n.*162C>T | |
| ENST00000638144.1:n.202C>T | ||
| ENST00000646164.1:c.38+8793C>T | ||
| ENST00000249806.9:c.559C>T | ENSP00000249806.5:p.Leu187Phe | |
| ENST00000538696.5:c.655C>T | ENSP00000445770.1:p.Leu219Phe | |
| ENST00000562767.1:c.84-12115C>T | ENSP00000456336.1:n.84-12115C>T | |
| ENST00000563917.1:n.459C>T | ||
| ENST00000564752.1:c.585C>T | ENSP00000457822.1:p.Ser195= | |
| ENST00000565471.5:c.100C>T | ENSP00000457384.1:p.Leu34Phe | |
| ENST00000566347.5:c.370C>T | ENSP00000457783.1:p.Leu124Phe | |
| ENST00000567060.5:c.298-23C>T | ENSP00000454818.1:n.298-23C>T | |
| NM_017882.2:c.559C>T | NP_060352.1:p.Leu187Phe | |
| XR_931861.1:n.781C>T | ||
| NM_017882.3:c.559C>T MANE Select | NP_060352.1:p.Leu187Phe |