Linked Data
dbSNP Id:
rs2086824
gnomAD v2:
16-89471246-A-C
gnomAD v3:
16-89404838-A-C
gnomAD v4:
16-89404838-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89404838A>C , CM000678.2:g.89404838A>C | GRCh38 |
| NC_000016.9:g.89471246A>C , CM000678.1:g.89471246A>C | GRCh37 |
| NC_000016.8:g.87998747A>C | NCBI36 |
| NG_032003.1:g.90724T>G | |
| NG_032003.2:g.90724T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711617.1:c.9+13446T>G | ENSP00000518812.1:n.9+13446T>G | |
| ENST00000683497.1:c.9+13446T>G | ENSP00000507632.1:n.9+13446T>G | |
| ENST00000301030.10:c.-60+13446T>G MANE Select | ENSP00000301030.4:n.-60+13446T>G | |
| ENST00000330736.10:c.-57+13446T>G | ENSP00000330815.5:n.-57+13446T>G | |
| ENST00000378330.7:c.-60+13446T>G | ENSP00000367581.2:n.-60+13446T>G | |
| ENST00000378332.7:c.-60+13446T>G | ENSP00000367583.2:n.-60+13446T>G | |
| ENST00000562211.2:n.114+7612T>G | ||
| ENST00000562275.6:c.-57+13446T>G | ENSP00000454550.1:n.-57+13446T>G | |
| ENST00000567699.2:n.161+13446T>G | ||
| ENST00000568512.6:n.161+13446T>G | ||
| ENST00000642443.1:c.-60+13446T>G | ENSP00000493644.1:n.-60+13446T>G | |
| ENST00000642600.1:c.-57+13446T>G | ENSP00000495226.1:n.-57+13446T>G | |
| ENST00000642695.1:c.-60+13446T>G | ENSP00000495449.1:n.-60+13446T>G | |
| ENST00000643147.1:n.127+13446T>G | ||
| ENST00000643964.1:c.-60+13446T>G | ENSP00000495181.1:n.-60+13446T>G | |
| ENST00000644045.1:c.-60+13446T>G | ENSP00000496636.1:n.-60+13446T>G | |
| ENST00000644139.1:n.330+7612T>G | ||
| ENST00000644784.1:c.-57+13446T>G | ENSP00000496419.1:n.-57+13446T>G | |
| ENST00000645278.1:c.-60+13446T>G | ENSP00000494850.1:n.-60+13446T>G | |
| ENST00000645844.1:n.116+13446T>G | ||
| ENST00000646166.1:c.9+13446T>G | ENSP00000493980.1:n.9+13446T>G | |
| ENST00000646413.1:n.258-1078T>G | ||
| ENST00000646975.1:c.-60+13446T>G | ENSP00000495608.1:n.-60+13446T>G | |
| ENST00000647213.1:c.-113+13446T>G | ENSP00000495399.1:n.-113+13446T>G | |
| ENST00000647238.1:c.-60+13446T>G | ENSP00000496656.1:n.-60+13446T>G | |
| ENST00000301030.8:c.-60+13446T>G | ENSP00000301030.4:n.-60+13446T>G | |
| ENST00000378330.6:c.-60+13446T>G | ENSP00000367581.2:n.-60+13446T>G | |
| ENST00000378332.6:c.-60+13446T>G | ENSP00000367583.2:n.-60+13446T>G | |
| ENST00000562816.5:n.241+13446T>G | ||
| ENST00000566973.1:n.161+13446T>G | ||
| ENST00000568512.5:n.134+13446T>G | ||
| ENST00000613312.4:c.-60+13446T>G | ENSP00000478018.1:n.-60+13446T>G | |
| NM_001256182.1:c.-60+13446T>G | NP_001243111.1:n.-60+13446T>G | |
| NM_001256183.1:c.-57+13446T>G | NP_001243112.1:n.-57+13446T>G | |
| NM_013275.5:c.-60+13446T>G | NP_037407.4:n.-60+13446T>G | |
| NR_045839.1:n.402+13446T>G | ||
| XM_006721181.1:c.-256+13446T>G | XP_006721244.1:n.-256+13446T>G | |
| XM_011523051.1:c.-60+13446T>G | XP_011521353.1:n.-60+13446T>G | |
| XM_011523053.1:c.-243+13446T>G | XP_011521355.1:n.-243+13446T>G | |
| XM_011523054.1:c.-259+13446T>G | XP_011521356.1:n.-259+13446T>G | |
| XM_011523055.1:c.-532+13446T>G | XP_011521357.1:n.-532+13446T>G | |
| XM_011523056.1:c.-308+13446T>G | XP_011521358.1:n.-308+13446T>G | |
| XM_011523057.1:c.-60+13446T>G | XP_011521359.1:n.-60+13446T>G | |
| XM_011523051.3:c.-60+13446T>G | XP_011521353.1:n.-60+13446T>G | |
| XM_011523053.2:c.-243+13446T>G | XP_011521355.1:n.-243+13446T>G | |
| XM_011523054.2:c.-259+13446T>G | XP_011521356.1:n.-259+13446T>G | |
| XM_011523055.2:c.-532+13446T>G | XP_011521357.1:n.-532+13446T>G | |
| XM_011523056.2:c.-308+13446T>G | XP_011521358.1:n.-308+13446T>G | |
| XM_011523057.2:c.-60+13446T>G | XP_011521359.1:n.-60+13446T>G | |
| XM_017023182.2:c.-60+13446T>G | XP_016878671.1:n.-60+13446T>G | |
| XM_017023183.1:c.-246+13446T>G | XP_016878672.1:n.-246+13446T>G | |
| XM_017023184.1:c.-243+13446T>G | XP_016878673.1:n.-243+13446T>G | |
| XM_017023186.1:c.-246+13446T>G | XP_016878675.1:n.-246+13446T>G | |
| XM_017023187.1:c.-57+85407T>G | XP_016878676.1:n.-57+85407T>G | |
| XM_024450244.1:c.-256+13446T>G | XP_024306012.1:n.-256+13446T>G | |
| NM_013275.6:c.-60+13446T>G MANE Select | NP_037407.4:n.-60+13446T>G | |
| NM_001256182.2:c.-60+13446T>G | NP_001243111.1:n.-60+13446T>G | |
| NM_001256183.2:c.-57+13446T>G | NP_001243112.1:n.-57+13446T>G | |
| NR_045839.2:n.402+13446T>G |