Linked Data
ClinVar Variation Id:
205173
dbSNP Id:
rs796052358
gnomAD v2:
15-68500708-A-C
gnomAD v4:
15-68208370-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208370A>C , CM000677.2:g.68208370A>C | GRCh38 |
| NC_000015.9:g.68500708A>C , CM000677.1:g.68500708A>C | GRCh37 |
| NC_000015.8:g.66287762A>C | NCBI36 |
| NG_008764.2:g.53842T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.706T>G MANE Select | ENSP00000249806.5:p.Phe236Val | |
| ENST00000562767.2:c.84-10742T>G | ENSP00000456336.1:n.84-10742T>G | |
| ENST00000563917.2:n.548T>G | ||
| ENST00000565471.6:c.247T>G | ENSP00000457384.1:p.Phe83Val | |
| ENST00000635747.1:c.*609T>G | ENSP00000490627.1:n.*609T>G | |
| ENST00000636212.1:c.*376T>G | ENSP00000489851.1:n.*376T>G | |
| ENST00000636674.1:n.1808T>G | ||
| ENST00000636964.1:n.2234T>G | ||
| ENST00000637054.1:c.198+10166T>G | ENSP00000490807.1:n.198+10166T>G | |
| ENST00000637329.1:c.675T>G | ||
| ENST00000637450.1:c.*360T>G | ENSP00000490204.1:n.*360T>G | |
| ENST00000637494.1:c.418T>G | ENSP00000490057.1:p.Phe140Val | |
| ENST00000637667.1:c.607T>G | ENSP00000489843.1:p.Phe203Val | |
| ENST00000637823.1:c.531T>G | ||
| ENST00000637888.1:c.198+10166T>G | ENSP00000490546.1:n.198+10166T>G | |
| ENST00000638076.1:c.*309T>G | ENSP00000490373.1:n.*309T>G | |
| ENST00000638144.1:n.349T>G | ||
| ENST00000646164.1:c.39-8689T>G | ||
| ENST00000249806.9:c.706T>G | ENSP00000249806.5:p.Phe236Val | |
| ENST00000538696.5:c.802T>G | ENSP00000445770.1:p.Phe268Val | |
| ENST00000562767.1:c.84-10742T>G | ENSP00000456336.1:n.84-10742T>G | |
| ENST00000564752.1:c.*90T>G | ENSP00000457822.1:n.*90T>G | |
| ENST00000565471.5:c.247T>G | ENSP00000457384.1:p.Phe83Val | |
| ENST00000566347.5:c.517T>G | ENSP00000457783.1:p.Phe173Val | |
| ENST00000567060.5:c.*104T>G | ENSP00000454818.1:n.*104T>G | |
| NM_017882.2:c.706T>G | NP_060352.1:p.Phe236Val | |
| NM_017882.3:c.706T>G MANE Select | NP_060352.1:p.Phe236Val |