Linked Data
dbSNP Id:
rs17415853
gnomAD v2:
12-15930805-T-C
gnomAD v3:
12-15777871-T-C
gnomAD v4:
12-15777871-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.15777871T>C , CM000674.2:g.15777871T>C | GRCh38 |
| NC_000012.11:g.15930805T>C , CM000674.1:g.15930805T>C | GRCh37 |
| NC_000012.10:g.15822072T>C | NCBI36 |
| NG_041808.1:g.16706A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281172.10:c.-22+11290A>G MANE Select | ENSP00000281172.5:n.-22+11290A>G | |
| ENST00000642278.1:c.-1352+11290A>G | ENSP00000494689.1:n.-1352+11290A>G | |
| ENST00000642939.1:c.-82+11290A>G | ENSP00000495312.1:n.-82+11290A>G | |
| ENST00000644374.1:c.-22+11290A>G | ENSP00000495956.1:n.-22+11290A>G | |
| ENST00000645775.1:c.-82+11290A>G | ENSP00000495824.1:n.-82+11290A>G | |
| ENST00000646123.1:c.-22+11290A>G | ENSP00000494338.1:n.-22+11290A>G | |
| ENST00000646828.1:c.-82+35691A>G | ENSP00000494842.1:n.-82+35691A>G | |
| ENST00000646918.1:c.-22+50310A>G | ENSP00000495722.1:n.-22+50310A>G | |
| ENST00000647087.1:c.-22+59702A>G | ENSP00000496406.1:n.-22+59702A>G | |
| ENST00000647224.1:c.-22+11290A>G | ENSP00000496516.1:n.-22+11290A>G | |
| ENST00000281172.9:c.-22+11290A>G | ENSP00000281172.5:n.-22+11290A>G | |
| ENST00000535752.5:c.-21-94899A>G | ENSP00000440591.1:n.-21-94899A>G | |
| ENST00000536793.5:c.-128+11290A>G | ENSP00000438668.1:n.-128+11290A>G | |
| ENST00000536956.5:c.-22+11290A>G | ENSP00000442883.1:n.-22+11290A>G | |
| ENST00000543363.5:c.-22+2708A>G | ENSP00000444613.1:n.-22+2708A>G | |
| ENST00000543468.5:c.-22+11290A>G | ENSP00000445985.1:n.-22+11290A>G | |
| ENST00000543523.5:c.-22+10092A>G | ENSP00000441867.1:n.-22+10092A>G | |
| ENST00000544064.1:c.-156+11290A>G | ENSP00000445815.1:n.-156+11290A>G | |
| NM_004447.5:c.-22+11290A>G | NP_004438.3:n.-22+11290A>G | |
| XM_011520605.1:c.-22+11290A>G | XP_011518907.1:n.-22+11290A>G | |
| XM_011520605.3:c.-22+11290A>G | XP_011518907.1:n.-22+11290A>G | |
| XM_024448882.1:c.-22+11132A>G | XP_024304650.1:n.-22+11132A>G | |
| NM_004447.6:c.-22+11290A>G MANE Select | NP_004438.3:n.-22+11290A>G |