Linked Data
dbSNP Id:
rs7518153
gnomAD v2:
1-53767650-C-T
gnomAD v3:
1-53301978-C-T
gnomAD v4:
1-53301978-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53301978C>T , CM000663.2:g.53301978C>T | GRCh38 |
| NC_000001.10:g.53767650C>T , CM000663.1:g.53767650C>T | GRCh37 |
| NC_000001.9:g.53540238C>T | NCBI36 |
| NG_011517.2:g.31172G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306052.12:c.245-12289G>A MANE Select | ENSP00000303634.6:n.245-12289G>A | |
| ENST00000347547.7:c.245-12289G>A | ENSP00000334522.2:n.245-12289G>A | |
| ENST00000465675.6:c.227-12289G>A | ENSP00000437009.2:n.227-12289G>A | |
| ENST00000480045.6:c.245-12289G>A | ENSP00000433554.2:n.245-12289G>A | |
| ENST00000654634.1:n.396-9686G>A | ||
| ENST00000655704.1:n.327-12289G>A | ||
| ENST00000657895.1:c.245-12289G>A | ENSP00000499764.1:n.245-12289G>A | |
| ENST00000658277.1:c.245-12289G>A | ENSP00000499550.1:n.245-12289G>A | |
| ENST00000658404.1:n.263-12289G>A | ||
| ENST00000659993.1:c.245-12289G>A | ENSP00000499697.1:n.245-12289G>A | |
| ENST00000661359.1:n.383-5874G>A | ||
| ENST00000661457.1:c.*329+10991G>A | ENSP00000499547.1:n.*329+10991G>A | |
| ENST00000662198.1:c.245-12289G>A | ENSP00000499355.1:n.245-12289G>A | |
| ENST00000662604.1:c.245-12289G>A | ENSP00000499486.1:n.245-12289G>A | |
| ENST00000667377.1:c.245-12289G>A | ENSP00000499405.1:n.245-12289G>A | |
| ENST00000668071.1:c.216-12289G>A | ||
| ENST00000668448.1:c.245-12289G>A | ENSP00000499273.1:n.245-12289G>A | |
| ENST00000668991.1:n.306-12289G>A | ||
| ENST00000669432.1:n.371-12289G>A | ||
| ENST00000306052.10:c.245-12289G>A | ENSP00000303634.6:n.245-12289G>A | |
| ENST00000347547.6:c.245-12289G>A | ENSP00000334522.2:n.245-12289G>A | |
| ENST00000354412.7:c.245-12289G>A | ENSP00000346391.3:n.245-12289G>A | |
| ENST00000371454.6:c.245-12289G>A | ENSP00000360509.2:n.245-12289G>A | |
| ENST00000465675.5:c.-584-12289G>A | ENSP00000437009.1:n.-584-12289G>A | |
| ENST00000480045.5:c.245-12289G>A | ENSP00000433554.1:n.245-12289G>A | |
| ENST00000496580.1:n.150-12289G>A | ||
| ENST00000613948.4:c.245-12289G>A | ENSP00000480025.1:n.245-12289G>A | |
| NM_001018054.2:c.245-12289G>A | NP_001018064.1:n.245-12289G>A | |
| NM_004631.4:c.245-12289G>A | NP_004622.2:n.245-12289G>A | |
| NM_017522.4:c.245-12289G>A | NP_059992.3:n.245-12289G>A | |
| NM_033300.3:c.245-12289G>A | NP_150643.2:n.245-12289G>A | |
| XM_005271173.2:c.245-12289G>A | XP_005271230.1:n.245-12289G>A | |
| XM_005271174.2:c.245-12289G>A | XP_005271231.1:n.245-12289G>A | |
| XM_005271175.2:c.245-12289G>A | XP_005271232.1:n.245-12289G>A | |
| XM_006710881.2:c.245-12289G>A | XP_006710944.1:n.245-12289G>A | |
| XM_006710882.2:c.245-12289G>A | XP_006710945.1:n.245-12289G>A | |
| XM_011542094.1:c.245-12289G>A | XP_011540396.1:n.245-12289G>A | |
| XM_011542095.1:c.245-12289G>A | XP_011540397.1:n.245-12289G>A | |
| XM_011542096.1:c.245-12289G>A | XP_011540398.1:n.245-12289G>A | |
| XM_011542097.1:c.245-12289G>A | XP_011540399.1:n.245-12289G>A | |
| XR_947350.1:n.9180-909C>T | ||
| XM_005271173.4:c.245-12289G>A | XP_005271230.1:n.245-12289G>A | |
| XM_005271174.3:c.245-12289G>A | XP_005271231.1:n.245-12289G>A | |
| XM_005271175.3:c.245-12289G>A | XP_005271232.1:n.245-12289G>A | |
| XM_006710881.4:c.245-12289G>A | XP_006710944.1:n.245-12289G>A | |
| XM_006710882.4:c.245-12289G>A | XP_006710945.1:n.245-12289G>A | |
| XM_011542094.2:c.245-12289G>A | XP_011540396.1:n.245-12289G>A | |
| XM_011542095.2:c.245-12289G>A | XP_011540397.1:n.245-12289G>A | |
| XM_011542096.2:c.245-12289G>A | XP_011540398.1:n.245-12289G>A | |
| XM_017002265.1:c.245-12289G>A | XP_016857754.1:n.245-12289G>A | |
| XM_017002266.2:c.245-12289G>A | XP_016857755.1:n.245-12289G>A | |
| XM_017002267.1:c.-587-12289G>A | XP_016857756.1:n.-587-12289G>A | |
| XM_017002268.1:c.-626-12289G>A | XP_016857757.1:n.-626-12289G>A | |
| XR_001738049.2:n.10053-909C>T | ||
| XR_001738050.2:n.10277-909C>T | ||
| XR_001738051.2:n.10279-909C>T | ||
| XR_001738052.2:n.9262-909C>T | ||
| XR_001738053.2:n.10111-909C>T | ||
| XR_001738054.2:n.10252-909C>T | ||
| XR_001738055.2:n.10054-909C>T | ||
| XR_002958306.1:n.10361-909C>T | ||
| XR_002958307.1:n.10361-909C>T | ||
| XR_002958308.1:n.10361-909C>T | ||
| XR_002958309.1:n.9460-909C>T | ||
| NM_001018054.3:c.245-12289G>A | NP_001018064.1:n.245-12289G>A | |
| NM_004631.5:c.245-12289G>A MANE Select | NP_004622.2:n.245-12289G>A | |
| NM_017522.5:c.245-12289G>A | NP_059992.3:n.245-12289G>A | |
| NM_033300.4:c.245-12289G>A | NP_150643.2:n.245-12289G>A |