Linked Data
dbSNP Id:
rs751043779
ExAC:
15:68503943 C / T
gnomAD v2:
15-68503943-C-T
gnomAD v3:
15-68211605-C-T
gnomAD v4:
15-68211605-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211605C>T , CM000677.2:g.68211605C>T | GRCh38 |
| NC_000015.9:g.68503943C>T , CM000677.1:g.68503943C>T | GRCh37 |
| NC_000015.8:g.66290997C>T | NCBI36 |
| NG_008764.2:g.50607G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.486+70G>A MANE Select | ENSP00000249806.5:n.486+70G>A | |
| ENST00000562767.2:c.84-13977G>A | ENSP00000456336.1:n.84-13977G>A | |
| ENST00000563917.2:n.328+70G>A | ||
| ENST00000565471.6:c.84-1846G>A | ENSP00000457384.1:n.84-1846G>A | |
| ENST00000635747.1:c.*389+70G>A | ENSP00000490627.1:n.*389+70G>A | |
| ENST00000636212.1:c.*107G>A | ENSP00000489851.1:n.*107G>A | |
| ENST00000636314.1:c.183-287G>A | ENSP00000490295.1:n.183-287G>A | |
| ENST00000636674.1:n.1539G>A | ||
| ENST00000636964.1:n.1728G>A | ||
| ENST00000637054.1:c.198+6931G>A | ENSP00000490807.1:n.198+6931G>A | |
| ENST00000637223.1:c.*201-287G>A | ENSP00000490010.1:n.*201-287G>A | |
| ENST00000637329.1:c.455+70G>A | ||
| ENST00000637450.1:c.*140+70G>A | ENSP00000490204.1:n.*140+70G>A | |
| ENST00000637494.1:c.199-287G>A | ENSP00000490057.1:n.199-287G>A | |
| ENST00000637667.1:c.387+70G>A | ENSP00000489843.1:n.387+70G>A | |
| ENST00000637823.1:c.262G>A | ||
| ENST00000637888.1:c.198+6931G>A | ENSP00000490546.1:n.198+6931G>A | |
| ENST00000638076.1:c.*40G>A | ENSP00000490373.1:n.*40G>A | |
| ENST00000638144.1:n.130-287G>A | ||
| ENST00000646164.1:c.38+6931G>A | ||
| ENST00000249806.9:c.486+70G>A | ENSP00000249806.5:n.486+70G>A | |
| ENST00000538696.5:c.582+70G>A | ENSP00000445770.1:n.582+70G>A | |
| ENST00000562767.1:c.84-13977G>A | ENSP00000456336.1:n.84-13977G>A | |
| ENST00000563917.1:n.337G>A | ||
| ENST00000564752.1:c.512+44G>A | ENSP00000457822.1:n.512+44G>A | |
| ENST00000565471.5:c.84-1846G>A | ENSP00000457384.1:n.84-1846G>A | |
| ENST00000566347.5:c.298-287G>A | ENSP00000457783.1:n.298-287G>A | |
| ENST00000567060.5:c.298-1885G>A | ENSP00000454818.1:n.298-1885G>A | |
| NM_017882.2:c.486+70G>A | NP_060352.1:n.486+70G>A | |
| XR_931861.1:n.659G>A | ||
| NM_017882.3:c.486+70G>A MANE Select | NP_060352.1:n.486+70G>A |