Linked Data
ClinVar Variation Id:
1638468
ClinVar RCV Id:
RCV002126202
dbSNP Id:
rs2093206613
gnomAD v3:
15-68211843-G-A
gnomAD v4:
15-68211843-G-A
MyVariant Identifiers:
chr15:g.68504181G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211843G>A , CM000677.2:g.68211843G>A | GRCh38 |
| NC_000015.9:g.68504181G>A , CM000677.1:g.68504181G>A | GRCh37 |
| NC_000015.8:g.66291235G>A | NCBI36 |
| NG_008764.2:g.50369C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.318C>T MANE Select | ENSP00000249806.5:p.Arg106= | |
| ENST00000562767.2:c.84-14215C>T | ENSP00000456336.1:n.84-14215C>T | |
| ENST00000563917.2:n.160C>T | ||
| ENST00000565471.6:c.84-2084C>T | ENSP00000457384.1:n.84-2084C>T | |
| ENST00000635747.1:c.*221C>T | ENSP00000490627.1:n.*221C>T | |
| ENST00000636212.1:c.298-102C>T | ENSP00000489851.1:n.298-102C>T | |
| ENST00000636314.1:c.183-525C>T | ENSP00000490295.1:n.183-525C>T | |
| ENST00000636674.1:n.1301C>T | ||
| ENST00000636964.1:n.1490C>T | ||
| ENST00000637054.1:c.198+6693C>T | ENSP00000490807.1:n.198+6693C>T | |
| ENST00000637223.1:c.*201-525C>T | ENSP00000490010.1:n.*201-525C>T | |
| ENST00000637329.1:c.287C>T | ||
| ENST00000637450.1:c.203C>T | ENSP00000490204.1:p.Ala68Val | |
| ENST00000637494.1:c.199-525C>T | ENSP00000490057.1:n.199-525C>T | |
| ENST00000637667.1:c.219C>T | ENSP00000489843.1:p.Arg73= | |
| ENST00000637823.1:c.224-200C>T | ||
| ENST00000637888.1:c.198+6693C>T | ENSP00000490546.1:n.198+6693C>T | |
| ENST00000638076.1:c.318C>T | ENSP00000490373.1:p.Arg106= | |
| ENST00000638144.1:n.130-525C>T | ||
| ENST00000646164.1:c.38+6693C>T | ||
| ENST00000249806.9:c.318C>T | ENSP00000249806.5:p.Arg106= | |
| ENST00000538696.5:c.414C>T | ENSP00000445770.1:p.Arg138= | |
| ENST00000562767.1:c.84-14215C>T | ENSP00000456336.1:n.84-14215C>T | |
| ENST00000563917.1:n.99C>T | ||
| ENST00000564752.1:c.318C>T | ENSP00000457822.1:p.Arg106= | |
| ENST00000565471.5:c.84-2084C>T | ENSP00000457384.1:n.84-2084C>T | |
| ENST00000566347.5:c.298-525C>T | ENSP00000457783.1:n.298-525C>T | |
| ENST00000567060.5:c.298-2123C>T | ENSP00000454818.1:n.298-2123C>T | |
| NM_017882.2:c.318C>T | NP_060352.1:p.Arg106= | |
| XR_931861.1:n.421C>T | ||
| NM_017882.3:c.318C>T MANE Select | NP_060352.1:p.Arg106= |