Linked Data
ClinVar Variation Id:
1130065
ClinVar RCV Id:
RCV001463412
dbSNP Id:
rs2141136113
MyVariant Identifiers:
chr15:g.68500703G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208365G>A , CM000677.2:g.68208365G>A | GRCh38 |
| NC_000015.9:g.68500703G>A , CM000677.1:g.68500703G>A | GRCh37 |
| NC_000015.8:g.66287757G>A | NCBI36 |
| NG_008764.2:g.53847C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.711C>T MANE Select | ENSP00000249806.5:p.Thr237= | |
| ENST00000562767.2:c.84-10737C>T | ENSP00000456336.1:n.84-10737C>T | |
| ENST00000563917.2:n.553C>T | ||
| ENST00000565471.6:c.252C>T | ENSP00000457384.1:p.Thr84= | |
| ENST00000635747.1:c.*614C>T | ENSP00000490627.1:n.*614C>T | |
| ENST00000636212.1:c.*381C>T | ENSP00000489851.1:n.*381C>T | |
| ENST00000636674.1:n.1813C>T | ||
| ENST00000636964.1:n.2239C>T | ||
| ENST00000637054.1:c.198+10171C>T | ENSP00000490807.1:n.198+10171C>T | |
| ENST00000637329.1:c.680C>T | ||
| ENST00000637450.1:c.*365C>T | ENSP00000490204.1:n.*365C>T | |
| ENST00000637494.1:c.423C>T | ENSP00000490057.1:p.Thr141= | |
| ENST00000637667.1:c.612C>T | ENSP00000489843.1:p.Thr204= | |
| ENST00000637823.1:c.536C>T | ||
| ENST00000637888.1:c.198+10171C>T | ENSP00000490546.1:n.198+10171C>T | |
| ENST00000638076.1:c.*314C>T | ENSP00000490373.1:n.*314C>T | |
| ENST00000638144.1:n.354C>T | ||
| ENST00000646164.1:c.39-8684C>T | ||
| ENST00000249806.9:c.711C>T | ENSP00000249806.5:p.Thr237= | |
| ENST00000538696.5:c.807C>T | ENSP00000445770.1:p.Thr269= | |
| ENST00000562767.1:c.84-10737C>T | ENSP00000456336.1:n.84-10737C>T | |
| ENST00000564752.1:c.*95C>T | ENSP00000457822.1:n.*95C>T | |
| ENST00000565471.5:c.252C>T | ENSP00000457384.1:p.Thr84= | |
| ENST00000566347.5:c.522C>T | ENSP00000457783.1:p.Thr174= | |
| ENST00000567060.5:c.*109C>T | ENSP00000454818.1:n.*109C>T | |
| NM_017882.2:c.711C>T | NP_060352.1:p.Thr237= | |
| NM_017882.3:c.711C>T MANE Select | NP_060352.1:p.Thr237= |