Linked Data
dbSNP Id:
rs3096299
gnomAD v2:
16-89448663-G-A
gnomAD v3:
16-89382255-G-A
gnomAD v4:
16-89382255-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89382255G>A , CM000678.2:g.89382255G>A | GRCh38 |
| NC_000016.9:g.89448663G>A , CM000678.1:g.89448663G>A | GRCh37 |
| NC_000016.8:g.87976164G>A | NCBI36 |
| NG_032003.1:g.113307C>T | |
| NG_032003.2:g.113307C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711617.1:c.9+36029C>T | ENSP00000518812.1:n.9+36029C>T | |
| ENST00000683497.1:c.9+36029C>T | ENSP00000507632.1:n.9+36029C>T | |
| ENST00000301030.10:c.-60+36029C>T MANE Select | ENSP00000301030.4:n.-60+36029C>T | |
| ENST00000330736.10:c.-57+36029C>T | ENSP00000330815.5:n.-57+36029C>T | |
| ENST00000378330.7:c.-60+36029C>T | ENSP00000367581.2:n.-60+36029C>T | |
| ENST00000378332.7:c.-60+36029C>T | ENSP00000367583.2:n.-60+36029C>T | |
| ENST00000562275.6:c.-57+36029C>T | ENSP00000454550.1:n.-57+36029C>T | |
| ENST00000567699.2:n.161+36029C>T | ||
| ENST00000568512.6:n.162-20578C>T | ||
| ENST00000642443.1:c.-60+36029C>T | ENSP00000493644.1:n.-60+36029C>T | |
| ENST00000642600.1:c.-57+36029C>T | ENSP00000495226.1:n.-57+36029C>T | |
| ENST00000642695.1:c.-60+36029C>T | ENSP00000495449.1:n.-60+36029C>T | |
| ENST00000643147.1:n.127+36029C>T | ||
| ENST00000643964.1:c.-60+36029C>T | ENSP00000495181.1:n.-60+36029C>T | |
| ENST00000644045.1:c.-60+36029C>T | ENSP00000496636.1:n.-60+36029C>T | |
| ENST00000644139.1:n.695+13442C>T | ||
| ENST00000644784.1:c.-57+36029C>T | ENSP00000496419.1:n.-57+36029C>T | |
| ENST00000645278.1:c.-60+36029C>T | ENSP00000494850.1:n.-60+36029C>T | |
| ENST00000645844.1:n.116+36029C>T | ||
| ENST00000646166.1:c.9+36029C>T | ENSP00000493980.1:n.9+36029C>T | |
| ENST00000646975.1:c.-60+36029C>T | ENSP00000495608.1:n.-60+36029C>T | |
| ENST00000647213.1:c.-113+36029C>T | ENSP00000495399.1:n.-113+36029C>T | |
| ENST00000647238.1:c.-60+36029C>T | ENSP00000496656.1:n.-60+36029C>T | |
| ENST00000301030.8:c.-60+36029C>T | ENSP00000301030.4:n.-60+36029C>T | |
| ENST00000378330.6:c.-60+36029C>T | ENSP00000367581.2:n.-60+36029C>T | |
| ENST00000378332.6:c.-60+36029C>T | ENSP00000367583.2:n.-60+36029C>T | |
| ENST00000562816.5:n.241+36029C>T | ||
| ENST00000566973.1:n.162-9121C>T | ||
| ENST00000568512.5:n.135-20578C>T | ||
| ENST00000613312.4:c.-60+36029C>T | ENSP00000478018.1:n.-60+36029C>T | |
| NM_001256182.1:c.-60+36029C>T | NP_001243111.1:n.-60+36029C>T | |
| NM_001256183.1:c.-57+36029C>T | NP_001243112.1:n.-57+36029C>T | |
| NM_013275.5:c.-60+36029C>T | NP_037407.4:n.-60+36029C>T | |
| NR_045839.1:n.402+36029C>T | ||
| XM_006721181.1:c.-256+36029C>T | XP_006721244.1:n.-256+36029C>T | |
| XM_011523051.1:c.-60+36029C>T | XP_011521353.1:n.-60+36029C>T | |
| XM_011523053.1:c.-242-20578C>T | XP_011521355.1:n.-242-20578C>T | |
| XM_011523054.1:c.-259+36029C>T | XP_011521356.1:n.-259+36029C>T | |
| XM_011523055.1:c.-532+36029C>T | XP_011521357.1:n.-532+36029C>T | |
| XM_011523056.1:c.-308+36029C>T | XP_011521358.1:n.-308+36029C>T | |
| XM_011523057.1:c.-60+36029C>T | XP_011521359.1:n.-60+36029C>T | |
| XM_011523051.3:c.-60+36029C>T | XP_011521353.1:n.-60+36029C>T | |
| XM_011523053.2:c.-242-20578C>T | XP_011521355.1:n.-242-20578C>T | |
| XM_011523054.2:c.-259+36029C>T | XP_011521356.1:n.-259+36029C>T | |
| XM_011523055.2:c.-532+36029C>T | XP_011521357.1:n.-532+36029C>T | |
| XM_011523056.2:c.-308+36029C>T | XP_011521358.1:n.-308+36029C>T | |
| XM_011523057.2:c.-60+36029C>T | XP_011521359.1:n.-60+36029C>T | |
| XM_017023182.2:c.-60+36029C>T | XP_016878671.1:n.-60+36029C>T | |
| XM_017023183.1:c.-245-20575C>T | XP_016878672.1:n.-245-20575C>T | |
| XM_017023184.1:c.-242-20575C>T | XP_016878673.1:n.-242-20575C>T | |
| XM_017023186.1:c.-245-20575C>T | XP_016878675.1:n.-245-20575C>T | |
| XM_017023187.1:c.-56-65180C>T | XP_016878676.1:n.-56-65180C>T | |
| XM_024450244.1:c.-256+36029C>T | XP_024306012.1:n.-256+36029C>T | |
| NM_013275.6:c.-60+36029C>T MANE Select | NP_037407.4:n.-60+36029C>T | |
| NM_001256182.2:c.-60+36029C>T | NP_001243111.1:n.-60+36029C>T | |
| NM_001256183.2:c.-57+36029C>T | NP_001243112.1:n.-57+36029C>T | |
| NR_045839.2:n.402+36029C>T |