Linked Data
ClinVar Variation Id:
374774
dbSNP Id:
rs750937323
ExAC:
15:68500516 A / G
gnomAD v2:
15-68500516-A-G
gnomAD v3:
15-68208178-A-G
gnomAD v4:
15-68208178-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208178A>G , CM000677.2:g.68208178A>G | GRCh38 |
| NC_000015.9:g.68500516A>G , CM000677.1:g.68500516A>G | GRCh37 |
| NC_000015.8:g.66287570A>G | NCBI36 |
| NG_008764.2:g.54034T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249806.11:c.898T>C MANE Select | ENSP00000249806.5:p.Trp300Arg | |
| ENST00000562767.2:c.84-10550T>C | ENSP00000456336.1:n.84-10550T>C | |
| ENST00000565471.6:c.439T>C | ENSP00000457384.1:p.Trp147Arg | |
| ENST00000635747.1:c.*801T>C | ENSP00000490627.1:n.*801T>C | |
| ENST00000636212.1:c.*568T>C | ENSP00000489851.1:n.*568T>C | |
| ENST00000636674.1:n.2000T>C | ||
| ENST00000636964.1:n.2426T>C | ||
| ENST00000637054.1:c.198+10358T>C | ENSP00000490807.1:n.198+10358T>C | |
| ENST00000637329.1:c.867T>C | ||
| ENST00000637494.1:c.610T>C | ENSP00000490057.1:p.Trp204Arg | |
| ENST00000637888.1:c.198+10358T>C | ENSP00000490546.1:n.198+10358T>C | |
| ENST00000638076.1:c.*501T>C | ENSP00000490373.1:n.*501T>C | |
| ENST00000638144.1:n.541T>C | ||
| ENST00000646164.1:c.39-8497T>C | ||
| ENST00000249806.9:c.898T>C | ENSP00000249806.5:p.Trp300Arg | |
| ENST00000538696.5:c.994T>C | ENSP00000445770.1:p.Trp332Arg | |
| ENST00000562767.1:c.84-10550T>C | ENSP00000456336.1:n.84-10550T>C | |
| ENST00000565471.5:c.439T>C | ENSP00000457384.1:p.Trp147Arg | |
| ENST00000566347.5:c.709T>C | ENSP00000457783.1:p.Trp237Arg | |
| ENST00000567060.5:c.*296T>C | ENSP00000454818.1:n.*296T>C | |
| NM_017882.2:c.898T>C | NP_060352.1:p.Trp300Arg | |
| NM_017882.3:c.898T>C MANE Select | NP_060352.1:p.Trp300Arg |