Linked Data
dbSNP Id:
rs1419531887
gnomAD v2:
15-68502127-C-A
gnomAD v3:
15-68209789-C-A
gnomAD v4:
15-68209789-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68209789C>A , CM000677.2:g.68209789C>A | GRCh38 |
| NC_000015.9:g.68502127C>A , CM000677.1:g.68502127C>A | GRCh37 |
| NC_000015.8:g.66289181C>A | NCBI36 |
| NG_008764.2:g.52423G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.543-30G>T MANE Select | ENSP00000249806.5:n.543-30G>T | |
| ENST00000562767.2:c.84-12161G>T | ENSP00000456336.1:n.84-12161G>T | |
| ENST00000563917.2:n.385-30G>T | ||
| ENST00000565471.6:c.84-30G>T | ENSP00000457384.1:n.84-30G>T | |
| ENST00000635747.1:c.*446-30G>T | ENSP00000490627.1:n.*446-30G>T | |
| ENST00000636212.1:c.*213-30G>T | ENSP00000489851.1:n.*213-30G>T | |
| ENST00000636314.1:c.239-30G>T | ENSP00000490295.1:n.239-30G>T | |
| ENST00000636674.1:n.1645-30G>T | ||
| ENST00000636964.1:n.2071-30G>T | ||
| ENST00000637054.1:c.198+8747G>T | ENSP00000490807.1:n.198+8747G>T | |
| ENST00000637223.1:c.*257-30G>T | ENSP00000490010.1:n.*257-30G>T | |
| ENST00000637329.1:c.512-30G>T | ||
| ENST00000637450.1:c.*197-30G>T | ENSP00000490204.1:n.*197-30G>T | |
| ENST00000637494.1:c.255-30G>T | ENSP00000490057.1:n.255-30G>T | |
| ENST00000637667.1:c.444-30G>T | ENSP00000489843.1:n.444-30G>T | |
| ENST00000637823.1:c.368-30G>T | ||
| ENST00000637888.1:c.198+8747G>T | ENSP00000490546.1:n.198+8747G>T | |
| ENST00000638076.1:c.*146-30G>T | ENSP00000490373.1:n.*146-30G>T | |
| ENST00000638144.1:n.186-30G>T | ||
| ENST00000646164.1:c.38+8747G>T | ||
| ENST00000249806.9:c.543-30G>T | ENSP00000249806.5:n.543-30G>T | |
| ENST00000538696.5:c.639-30G>T | ENSP00000445770.1:n.639-30G>T | |
| ENST00000562767.1:c.84-12161G>T | ENSP00000456336.1:n.84-12161G>T | |
| ENST00000563917.1:n.443-30G>T | ||
| ENST00000564752.1:c.569-30G>T | ENSP00000457822.1:n.569-30G>T | |
| ENST00000565471.5:c.84-30G>T | ENSP00000457384.1:n.84-30G>T | |
| ENST00000566347.5:c.354-30G>T | ENSP00000457783.1:n.354-30G>T | |
| ENST00000567060.5:c.298-69G>T | ENSP00000454818.1:n.298-69G>T | |
| NM_017882.2:c.543-30G>T | NP_060352.1:n.543-30G>T | |
| XR_931861.1:n.765-30G>T | ||
| NM_017882.3:c.543-30G>T MANE Select | NP_060352.1:n.543-30G>T |