Linked Data
ClinVar Variation Id:
1112893
ClinVar RCV Id:
RCV001440078
dbSNP Id:
rs1231500700
gnomAD v2:
15-68504151-G-A
gnomAD v3:
15-68211813-G-A
gnomAD v4:
15-68211813-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211813G>A , CM000677.2:g.68211813G>A | GRCh38 |
| NC_000015.9:g.68504151G>A , CM000677.1:g.68504151G>A | GRCh37 |
| NC_000015.8:g.66291205G>A | NCBI36 |
| NG_008764.2:g.50399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.348C>T MANE Select | ENSP00000249806.5:p.Ser116= | |
| ENST00000562767.2:c.84-14185C>T | ENSP00000456336.1:n.84-14185C>T | |
| ENST00000563917.2:n.190C>T | ||
| ENST00000565471.6:c.84-2054C>T | ENSP00000457384.1:n.84-2054C>T | |
| ENST00000635747.1:c.*251C>T | ENSP00000490627.1:n.*251C>T | |
| ENST00000636212.1:c.298-72C>T | ENSP00000489851.1:n.298-72C>T | |
| ENST00000636314.1:c.183-495C>T | ENSP00000490295.1:n.183-495C>T | |
| ENST00000636674.1:n.1331C>T | ||
| ENST00000636964.1:n.1520C>T | ||
| ENST00000637054.1:c.198+6723C>T | ENSP00000490807.1:n.198+6723C>T | |
| ENST00000637223.1:c.*201-495C>T | ENSP00000490010.1:n.*201-495C>T | |
| ENST00000637329.1:c.317C>T | ||
| ENST00000637450.1:c.*2C>T | ENSP00000490204.1:n.*2C>T | |
| ENST00000637494.1:c.199-495C>T | ENSP00000490057.1:n.199-495C>T | |
| ENST00000637667.1:c.249C>T | ENSP00000489843.1:p.Ser83= | |
| ENST00000637823.1:c.224-170C>T | ||
| ENST00000637888.1:c.198+6723C>T | ENSP00000490546.1:n.198+6723C>T | |
| ENST00000638076.1:c.348C>T | ENSP00000490373.1:p.Ser116= | |
| ENST00000638144.1:n.130-495C>T | ||
| ENST00000646164.1:c.38+6723C>T | ||
| ENST00000249806.9:c.348C>T | ENSP00000249806.5:p.Ser116= | |
| ENST00000538696.5:c.444C>T | ENSP00000445770.1:p.Ser148= | |
| ENST00000562767.1:c.84-14185C>T | ENSP00000456336.1:n.84-14185C>T | |
| ENST00000563917.1:n.129C>T | ||
| ENST00000564752.1:c.348C>T | ENSP00000457822.1:p.Ser116= | |
| ENST00000565471.5:c.84-2054C>T | ENSP00000457384.1:n.84-2054C>T | |
| ENST00000566347.5:c.298-495C>T | ENSP00000457783.1:n.298-495C>T | |
| ENST00000567060.5:c.298-2093C>T | ENSP00000454818.1:n.298-2093C>T | |
| NM_017882.2:c.348C>T | NP_060352.1:p.Ser116= | |
| XR_931861.1:n.451C>T | ||
| NM_017882.3:c.348C>T MANE Select | NP_060352.1:p.Ser116= |