Linked Data
dbSNP Id:
rs1466229903
gnomAD v2:
15-68503569-C-A
gnomAD v3:
15-68211231-C-A
gnomAD v4:
15-68211231-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68211231C>A , CM000677.2:g.68211231C>A | GRCh38 |
| NC_000015.9:g.68503569C>A , CM000677.1:g.68503569C>A | GRCh37 |
| NC_000015.8:g.66290623C>A | NCBI36 |
| NG_008764.2:g.50981G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.542+32G>T MANE Select | ENSP00000249806.5:n.542+32G>T | |
| ENST00000562767.2:c.84-13603G>T | ENSP00000456336.1:n.84-13603G>T | |
| ENST00000563917.2:n.384+32G>T | ||
| ENST00000565471.6:c.84-1472G>T | ENSP00000457384.1:n.84-1472G>T | |
| ENST00000635747.1:c.*445+32G>T | ENSP00000490627.1:n.*445+32G>T | |
| ENST00000636212.1:c.*212+32G>T | ENSP00000489851.1:n.*212+32G>T | |
| ENST00000636314.1:c.238+32G>T | ENSP00000490295.1:n.238+32G>T | |
| ENST00000636674.1:n.1644+32G>T | ||
| ENST00000636964.1:n.2070+32G>T | ||
| ENST00000637054.1:c.198+7305G>T | ENSP00000490807.1:n.198+7305G>T | |
| ENST00000637223.1:c.*256+32G>T | ENSP00000490010.1:n.*256+32G>T | |
| ENST00000637329.1:c.511+32G>T | ||
| ENST00000637450.1:c.*196+32G>T | ENSP00000490204.1:n.*196+32G>T | |
| ENST00000637494.1:c.254+32G>T | ENSP00000490057.1:n.254+32G>T | |
| ENST00000637667.1:c.443+32G>T | ENSP00000489843.1:n.443+32G>T | |
| ENST00000637823.1:c.367+32G>T | ||
| ENST00000637888.1:c.198+7305G>T | ENSP00000490546.1:n.198+7305G>T | |
| ENST00000638076.1:c.*145+32G>T | ENSP00000490373.1:n.*145+32G>T | |
| ENST00000638144.1:n.185+32G>T | ||
| ENST00000646164.1:c.38+7305G>T | ||
| ENST00000249806.9:c.542+32G>T | ENSP00000249806.5:n.542+32G>T | |
| ENST00000538696.5:c.638+32G>T | ENSP00000445770.1:n.638+32G>T | |
| ENST00000562767.1:c.84-13603G>T | ENSP00000456336.1:n.84-13603G>T | |
| ENST00000563917.1:n.442+32G>T | ||
| ENST00000564752.1:c.568+32G>T | ENSP00000457822.1:n.568+32G>T | |
| ENST00000565471.5:c.84-1472G>T | ENSP00000457384.1:n.84-1472G>T | |
| ENST00000566347.5:c.353+32G>T | ENSP00000457783.1:n.353+32G>T | |
| ENST00000567060.5:c.298-1511G>T | ENSP00000454818.1:n.298-1511G>T | |
| NM_017882.2:c.542+32G>T | NP_060352.1:n.542+32G>T | |
| XR_931861.1:n.764+32G>T | ||
| NM_017882.3:c.542+32G>T MANE Select | NP_060352.1:n.542+32G>T |