Linked Data
ClinVar Variation Id:
835676
ClinVar RCV Id:
RCV001036617
dbSNP Id:
rs777459938
ExAC:
15:68502047 G / C
gnomAD v2:
15-68502047-G-C
gnomAD v3:
15-68209709-G-C
gnomAD v4:
15-68209709-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68209709G>C , CM000677.2:g.68209709G>C | GRCh38 |
| NC_000015.9:g.68502047G>C , CM000677.1:g.68502047G>C | GRCh37 |
| NC_000015.8:g.66289101G>C | NCBI36 |
| NG_008764.2:g.52503C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.593C>G MANE Select | ENSP00000249806.5:p.Thr198Ser | |
| ENST00000562767.2:c.84-12081C>G | ENSP00000456336.1:n.84-12081C>G | |
| ENST00000563917.2:n.435C>G | ||
| ENST00000565471.6:c.134C>G | ENSP00000457384.1:p.Thr45Ser | |
| ENST00000635747.1:c.*496C>G | ENSP00000490627.1:n.*496C>G | |
| ENST00000636212.1:c.*263C>G | ENSP00000489851.1:n.*263C>G | |
| ENST00000636314.1:c.289C>G | ENSP00000490295.1:p.Leu97Val | |
| ENST00000636674.1:n.1695C>G | ||
| ENST00000636964.1:n.2121C>G | ||
| ENST00000637054.1:c.198+8827C>G | ENSP00000490807.1:n.198+8827C>G | |
| ENST00000637223.1:c.*307C>G | ENSP00000490010.1:n.*307C>G | |
| ENST00000637329.1:c.562C>G | ||
| ENST00000637450.1:c.*247C>G | ENSP00000490204.1:n.*247C>G | |
| ENST00000637494.1:c.305C>G | ENSP00000490057.1:p.Thr102Ser | |
| ENST00000637667.1:c.494C>G | ENSP00000489843.1:p.Thr165Ser | |
| ENST00000637823.1:c.418C>G | ||
| ENST00000637888.1:c.198+8827C>G | ENSP00000490546.1:n.198+8827C>G | |
| ENST00000638076.1:c.*196C>G | ENSP00000490373.1:n.*196C>G | |
| ENST00000638144.1:n.236C>G | ||
| ENST00000646164.1:c.38+8827C>G | ||
| ENST00000249806.9:c.593C>G | ENSP00000249806.5:p.Thr198Ser | |
| ENST00000538696.5:c.689C>G | ENSP00000445770.1:p.Thr230Ser | |
| ENST00000562767.1:c.84-12081C>G | ENSP00000456336.1:n.84-12081C>G | |
| ENST00000563917.1:n.493C>G | ||
| ENST00000564752.1:c.619C>G | ENSP00000457822.1:p.Leu207Val | |
| ENST00000565471.5:c.134C>G | ENSP00000457384.1:p.Thr45Ser | |
| ENST00000566347.5:c.404C>G | ENSP00000457783.1:p.Thr135Ser | |
| ENST00000567060.5:c.309C>G | ENSP00000454818.1:p.Tyr103Ter | |
| NM_017882.2:c.593C>G | NP_060352.1:p.Thr198Ser | |
| XR_931861.1:n.815C>G | ||
| NM_017882.3:c.593C>G MANE Select | NP_060352.1:p.Thr198Ser |