Linked Data
dbSNP Id:
rs1288491
gnomAD v2:
1-53771861-C-T
gnomAD v3:
1-53306189-C-T
gnomAD v4:
1-53306189-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.53306189C>T , CM000663.2:g.53306189C>T | GRCh38 |
| NC_000001.10:g.53771861C>T , CM000663.1:g.53771861C>T | GRCh37 |
| NC_000001.9:g.53544449C>T | NCBI36 |
| NG_011517.2:g.26961G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306052.12:c.245-16500G>A MANE Select | ENSP00000303634.6:n.245-16500G>A | |
| ENST00000347547.7:c.245-16500G>A | ENSP00000334522.2:n.245-16500G>A | |
| ENST00000465675.6:c.227-16500G>A | ENSP00000437009.2:n.227-16500G>A | |
| ENST00000480045.6:c.245-16500G>A | ENSP00000433554.2:n.245-16500G>A | |
| ENST00000654634.1:n.396-13897G>A | ||
| ENST00000655704.1:n.327-16500G>A | ||
| ENST00000657895.1:c.245-16500G>A | ENSP00000499764.1:n.245-16500G>A | |
| ENST00000658277.1:c.245-16500G>A | ENSP00000499550.1:n.245-16500G>A | |
| ENST00000658404.1:n.263-16500G>A | ||
| ENST00000659993.1:c.245-16500G>A | ENSP00000499697.1:n.245-16500G>A | |
| ENST00000661359.1:n.383-10085G>A | ||
| ENST00000661457.1:c.*329+6780G>A | ENSP00000499547.1:n.*329+6780G>A | |
| ENST00000662198.1:c.245-16500G>A | ENSP00000499355.1:n.245-16500G>A | |
| ENST00000662604.1:c.245-16500G>A | ENSP00000499486.1:n.245-16500G>A | |
| ENST00000667377.1:c.245-16500G>A | ENSP00000499405.1:n.245-16500G>A | |
| ENST00000668071.1:c.216-16500G>A | ||
| ENST00000668448.1:c.245-16500G>A | ENSP00000499273.1:n.245-16500G>A | |
| ENST00000668991.1:n.306-16500G>A | ||
| ENST00000669432.1:n.371-16500G>A | ||
| ENST00000306052.10:c.245-16500G>A | ENSP00000303634.6:n.245-16500G>A | |
| ENST00000347547.6:c.245-16500G>A | ENSP00000334522.2:n.245-16500G>A | |
| ENST00000354412.7:c.245-16500G>A | ENSP00000346391.3:n.245-16500G>A | |
| ENST00000371454.6:c.245-16500G>A | ENSP00000360509.2:n.245-16500G>A | |
| ENST00000465675.5:c.-584-16500G>A | ENSP00000437009.1:n.-584-16500G>A | |
| ENST00000480045.5:c.245-16500G>A | ENSP00000433554.1:n.245-16500G>A | |
| ENST00000496580.1:n.150-16500G>A | ||
| ENST00000613948.4:c.245-16500G>A | ENSP00000480025.1:n.245-16500G>A | |
| NM_001018054.2:c.245-16500G>A | NP_001018064.1:n.245-16500G>A | |
| NM_004631.4:c.245-16500G>A | NP_004622.2:n.245-16500G>A | |
| NM_017522.4:c.245-16500G>A | NP_059992.3:n.245-16500G>A | |
| NM_033300.3:c.245-16500G>A | NP_150643.2:n.245-16500G>A | |
| XM_005271173.2:c.245-16500G>A | XP_005271230.1:n.245-16500G>A | |
| XM_005271174.2:c.245-16500G>A | XP_005271231.1:n.245-16500G>A | |
| XM_005271175.2:c.245-16500G>A | XP_005271232.1:n.245-16500G>A | |
| XM_006710881.2:c.245-16500G>A | XP_006710944.1:n.245-16500G>A | |
| XM_006710882.2:c.245-16500G>A | XP_006710945.1:n.245-16500G>A | |
| XM_011542094.1:c.245-16500G>A | XP_011540396.1:n.245-16500G>A | |
| XM_011542095.1:c.245-16500G>A | XP_011540397.1:n.245-16500G>A | |
| XM_011542096.1:c.245-16500G>A | XP_011540398.1:n.245-16500G>A | |
| XM_011542097.1:c.245-16500G>A | XP_011540399.1:n.245-16500G>A | |
| XR_947350.1:n.12482C>T | ||
| XM_005271173.4:c.245-16500G>A | XP_005271230.1:n.245-16500G>A | |
| XM_005271174.3:c.245-16500G>A | XP_005271231.1:n.245-16500G>A | |
| XM_005271175.3:c.245-16500G>A | XP_005271232.1:n.245-16500G>A | |
| XM_006710881.4:c.245-16500G>A | XP_006710944.1:n.245-16500G>A | |
| XM_006710882.4:c.245-16500G>A | XP_006710945.1:n.245-16500G>A | |
| XM_011542094.2:c.245-16500G>A | XP_011540396.1:n.245-16500G>A | |
| XM_011542095.2:c.245-16500G>A | XP_011540397.1:n.245-16500G>A | |
| XM_011542096.2:c.245-16500G>A | XP_011540398.1:n.245-16500G>A | |
| XM_017002265.1:c.245-16500G>A | XP_016857754.1:n.245-16500G>A | |
| XM_017002266.2:c.245-16500G>A | XP_016857755.1:n.245-16500G>A | |
| XM_017002267.1:c.-587-16500G>A | XP_016857756.1:n.-587-16500G>A | |
| XM_017002268.1:c.-626-16500G>A | XP_016857757.1:n.-626-16500G>A | |
| XR_001738049.2:n.13355C>T | ||
| XR_001738050.2:n.13579C>T | ||
| XR_001738051.2:n.13581C>T | ||
| XR_001738052.2:n.12564C>T | ||
| XR_001738053.2:n.13413C>T | ||
| XR_001738054.2:n.13554C>T | ||
| XR_001738055.2:n.13356C>T | ||
| XR_002958306.1:n.13663C>T | ||
| XR_002958307.1:n.13663C>T | ||
| XR_002958308.1:n.10453-1603C>T | ||
| XR_002958309.1:n.12762C>T | ||
| NM_001018054.3:c.245-16500G>A | NP_001018064.1:n.245-16500G>A | |
| NM_004631.5:c.245-16500G>A MANE Select | NP_004622.2:n.245-16500G>A | |
| NM_017522.5:c.245-16500G>A | NP_059992.3:n.245-16500G>A | |
| NM_033300.4:c.245-16500G>A | NP_150643.2:n.245-16500G>A |