Linked Data
ClinVar Variation Id:
1364506
ClinVar RCV Id:
RCV001937470
dbSNP Id:
rs537994561
ExAC:
15:68500664 G / A
gnomAD v2:
15-68500664-G-A
gnomAD v3:
15-68208326-G-A
gnomAD v4:
15-68208326-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208326G>A , CM000677.2:g.68208326G>A | GRCh38 |
| NC_000015.9:g.68500664G>A , CM000677.1:g.68500664G>A | GRCh37 |
| NC_000015.8:g.66287718G>A | NCBI36 |
| NG_008764.2:g.53886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.750C>T MANE Select | ENSP00000249806.5:p.Arg250= | |
| ENST00000562767.2:c.84-10698C>T | ENSP00000456336.1:n.84-10698C>T | |
| ENST00000565471.6:c.291C>T | ENSP00000457384.1:p.Arg97= | |
| ENST00000635747.1:c.*653C>T | ENSP00000490627.1:n.*653C>T | |
| ENST00000636212.1:c.*420C>T | ENSP00000489851.1:n.*420C>T | |
| ENST00000636674.1:n.1852C>T | ||
| ENST00000636964.1:n.2278C>T | ||
| ENST00000637054.1:c.198+10210C>T | ENSP00000490807.1:n.198+10210C>T | |
| ENST00000637329.1:c.719C>T | ||
| ENST00000637450.1:c.*404C>T | ENSP00000490204.1:n.*404C>T | |
| ENST00000637494.1:c.462C>T | ENSP00000490057.1:p.Arg154= | |
| ENST00000637667.1:c.651C>T | ENSP00000489843.1:p.Arg217= | |
| ENST00000637823.1:c.575C>T | ||
| ENST00000637888.1:c.198+10210C>T | ENSP00000490546.1:n.198+10210C>T | |
| ENST00000638076.1:c.*353C>T | ENSP00000490373.1:n.*353C>T | |
| ENST00000638144.1:n.393C>T | ||
| ENST00000646164.1:c.39-8645C>T | ||
| ENST00000249806.9:c.750C>T | ENSP00000249806.5:p.Arg250= | |
| ENST00000538696.5:c.846C>T | ENSP00000445770.1:p.Arg282= | |
| ENST00000562767.1:c.84-10698C>T | ENSP00000456336.1:n.84-10698C>T | |
| ENST00000565471.5:c.291C>T | ENSP00000457384.1:p.Arg97= | |
| ENST00000566347.5:c.561C>T | ENSP00000457783.1:p.Arg187= | |
| ENST00000567060.5:c.*148C>T | ENSP00000454818.1:n.*148C>T | |
| NM_017882.2:c.750C>T | NP_060352.1:p.Arg250= | |
| NM_017882.3:c.750C>T MANE Select | NP_060352.1:p.Arg250= |