Linked Data
ClinVar Variation Id:
2440145
ClinVar RCV Id:
RCV003145045
dbSNP Id:
rs959199004
gnomAD v2:
15-68500714-A-G
gnomAD v4:
15-68208376-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208376A>G , CM000677.2:g.68208376A>G | GRCh38 |
| NC_000015.9:g.68500714A>G , CM000677.1:g.68500714A>G | GRCh37 |
| NC_000015.8:g.66287768A>G | NCBI36 |
| NG_008764.2:g.53836T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.700T>C MANE Select | ENSP00000249806.5:p.Phe234Leu | |
| ENST00000562767.2:c.84-10748T>C | ENSP00000456336.1:n.84-10748T>C | |
| ENST00000563917.2:n.542T>C | ||
| ENST00000565471.6:c.241T>C | ENSP00000457384.1:p.Phe81Leu | |
| ENST00000635747.1:c.*603T>C | ENSP00000490627.1:n.*603T>C | |
| ENST00000636212.1:c.*370T>C | ENSP00000489851.1:n.*370T>C | |
| ENST00000636674.1:n.1802T>C | ||
| ENST00000636964.1:n.2228T>C | ||
| ENST00000637054.1:c.198+10160T>C | ENSP00000490807.1:n.198+10160T>C | |
| ENST00000637329.1:c.669T>C | ||
| ENST00000637450.1:c.*354T>C | ENSP00000490204.1:n.*354T>C | |
| ENST00000637494.1:c.412T>C | ENSP00000490057.1:p.Phe138Leu | |
| ENST00000637667.1:c.601T>C | ENSP00000489843.1:p.Phe201Leu | |
| ENST00000637823.1:c.525T>C | ||
| ENST00000637888.1:c.198+10160T>C | ENSP00000490546.1:n.198+10160T>C | |
| ENST00000638076.1:c.*303T>C | ENSP00000490373.1:n.*303T>C | |
| ENST00000638144.1:n.343T>C | ||
| ENST00000646164.1:c.39-8695T>C | ||
| ENST00000249806.9:c.700T>C | ENSP00000249806.5:p.Phe234Leu | |
| ENST00000538696.5:c.796T>C | ENSP00000445770.1:p.Phe266Leu | |
| ENST00000562767.1:c.84-10748T>C | ENSP00000456336.1:n.84-10748T>C | |
| ENST00000564752.1:c.*84T>C | ENSP00000457822.1:n.*84T>C | |
| ENST00000565471.5:c.241T>C | ENSP00000457384.1:p.Phe81Leu | |
| ENST00000566347.5:c.511T>C | ENSP00000457783.1:p.Phe171Leu | |
| ENST00000567060.5:c.*98T>C | ENSP00000454818.1:n.*98T>C | |
| NM_017882.2:c.700T>C | NP_060352.1:p.Phe234Leu | |
| NM_017882.3:c.700T>C MANE Select | NP_060352.1:p.Phe234Leu |