Linked Data
dbSNP Id:
rs12221497
gnomAD v2:
11-47280653-G-A
gnomAD v3:
11-47259102-G-A
gnomAD v4:
11-47259102-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47259102G>A , CM000673.2:g.47259102G>A | GRCh38 |
| NC_000011.9:g.47280653G>A , CM000673.1:g.47280653G>A | GRCh37 |
| NC_000011.8:g.47237229G>A | NCBI36 |
| NG_030392.1:g.15803G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000441012.7:c.-37-78G>A MANE Select | ENSP00000387946.2:n.-37-78G>A | |
| ENST00000395397.7:c.-92-689G>A | ENSP00000378793.3:n.-92-689G>A | |
| ENST00000405576.5:c.-92-689G>A | ENSP00000385073.1:n.-92-689G>A | |
| ENST00000405853.7:c.-37-78G>A | ENSP00000384745.3:n.-37-78G>A | |
| ENST00000407404.5:c.-37-78G>A | ENSP00000385801.1:n.-37-78G>A | |
| ENST00000412937.5:c.-92-689G>A | ENSP00000412636.1:n.-92-689G>A | |
| ENST00000419652.5:c.-37-78G>A | ENSP00000407716.1:n.-37-78G>A | |
| ENST00000420369.5:c.-37-78G>A | ENSP00000406692.1:n.-37-78G>A | |
| ENST00000436029.5:c.-115G>A | ENSP00000403696.1:n.-115G>A | |
| ENST00000436778.5:c.-37-78G>A | ENSP00000403798.1:n.-37-78G>A | |
| ENST00000437276.1:c.-32-83G>A | ENSP00000396132.1:n.-32-83G>A | |
| ENST00000441012.6:c.-37-78G>A | ENSP00000387946.2:n.-37-78G>A | |
| ENST00000444396.5:c.-37-78G>A | ENSP00000391005.1:n.-37-78G>A | |
| ENST00000449369.5:c.-37-78G>A | ENSP00000415591.1:n.-37-78G>A | |
| ENST00000457932.5:c.-37-78G>A | ENSP00000413095.1:n.-37-78G>A | |
| ENST00000461778.5:n.215G>A | ||
| ENST00000467728.5:c.-115G>A | ENSP00000420656.1:n.-115G>A | |
| ENST00000476086.6:n.130-689G>A | ||
| ENST00000481020.5:n.77-689G>A | ||
| ENST00000481889.6:c.-92-689G>A | ENSP00000433271.1:n.-92-689G>A | |
| ENST00000487913.5:n.74-2139G>A | ||
| ENST00000495866.5:n.283-689G>A | ||
| ENST00000498548.1:n.223G>A | ||
| ENST00000525441.5:n.161-78G>A | ||
| ENST00000527464.5:n.283-689G>A | ||
| ENST00000529540.5:n.231-689G>A | ||
| ENST00000530310.1:n.61-78G>A | ||
| ENST00000531660.5:c.-92-689G>A | ENSP00000434650.1:n.-92-689G>A | |
| ENST00000532630.1:n.74-8811G>A | ||
| ENST00000616973.4:c.62-689G>A | ENSP00000477707.1:n.62-689G>A | |
| NM_001130101.2:c.-37-78G>A | NP_001123573.1:n.-37-78G>A | |
| NM_001130102.2:c.-92-689G>A | NP_001123574.1:n.-92-689G>A | |
| NM_001251934.1:c.62-689G>A | NP_001238863.1:n.62-689G>A | |
| NM_001251935.1:c.62-689G>A | NP_001238864.1:n.62-689G>A | |
| NM_005693.3:c.-37-78G>A | NP_005684.2:n.-37-78G>A | |
| XM_005252705.1:c.-37-78G>A | XP_005252762.1:n.-37-78G>A | |
| XM_005252706.1:c.-37-78G>A | XP_005252763.1:n.-37-78G>A | |
| XM_005252707.3:c.-115G>A | XP_005252764.1:n.-115G>A | |
| XM_005252709.1:c.-177-78G>A | XP_005252766.1:n.-177-78G>A | |
| XM_005252710.1:c.-177-78G>A | XP_005252767.1:n.-177-78G>A | |
| XM_005252713.2:c.-37-78G>A | XP_005252770.1:n.-37-78G>A | |
| XM_005252715.2:c.-37-78G>A | XP_005252772.1:n.-37-78G>A | |
| XM_005252716.2:c.-92-689G>A | XP_005252773.1:n.-92-689G>A | |
| XM_005252718.2:c.-92-689G>A | XP_005252775.1:n.-92-689G>A | |
| XM_006718112.1:c.-37-78G>A | XP_006718175.1:n.-37-78G>A | |
| XM_006718113.1:c.-37-78G>A | XP_006718176.1:n.-37-78G>A | |
| XM_006718114.2:c.-115G>A | XP_006718177.1:n.-115G>A | |
| XM_006718115.1:c.-177-78G>A | XP_006718178.1:n.-177-78G>A | |
| XM_006718116.1:c.-92-689G>A | XP_006718179.1:n.-92-689G>A | |
| XM_011519805.1:c.-37-78G>A | XP_011518107.1:n.-37-78G>A | |
| XM_011519806.1:c.-92-689G>A | XP_011518108.1:n.-92-689G>A | |
| XM_011519807.1:c.-92-689G>A | XP_011518109.1:n.-92-689G>A | |
| XM_011519808.1:c.-137-2139G>A | XP_011518110.1:n.-137-2139G>A | |
| NM_001363595.1:c.-92-689G>A | NP_001350524.1:n.-92-689G>A | |
| XM_005252713.3:c.-37-78G>A | XP_005252770.1:n.-37-78G>A | |
| XM_005252718.3:c.-92-689G>A | XP_005252775.1:n.-92-689G>A | |
| XM_011519805.2:c.-37-78G>A | XP_011518107.1:n.-37-78G>A | |
| XM_011519808.2:c.-137-2139G>A | XP_011518110.1:n.-137-2139G>A | |
| XM_017017056.1:c.-92-689G>A | XP_016872545.1:n.-92-689G>A | |
| XM_017017057.1:c.-92-689G>A | XP_016872546.1:n.-92-689G>A | |
| XM_024448284.1:c.-37-78G>A | XP_024304052.1:n.-37-78G>A | |
| XM_024448285.1:c.-37-78G>A | XP_024304053.1:n.-37-78G>A | |
| XM_024448286.1:c.-115G>A | XP_024304054.1:n.-115G>A | |
| XM_024448287.1:c.-37-78G>A | XP_024304055.1:n.-37-78G>A | |
| XM_024448288.1:c.-37-78G>A | XP_024304056.1:n.-37-78G>A | |
| XM_024448289.1:c.-92-689G>A | XP_024304057.1:n.-92-689G>A | |
| XM_024448290.1:c.-177-78G>A | XP_024304058.1:n.-177-78G>A | |
| XM_024448291.1:c.-177-78G>A | XP_024304059.1:n.-177-78G>A | |
| XM_024448292.1:c.-92-689G>A | XP_024304060.1:n.-92-689G>A | |
| XM_024448293.1:c.-177-78G>A | XP_024304061.1:n.-177-78G>A | |
| XM_024448294.1:c.-97-684G>A | XP_024304062.1:n.-97-684G>A | |
| XM_024448295.1:c.-92-689G>A | XP_024304063.1:n.-92-689G>A | |
| XM_024448296.1:c.-92-689G>A | XP_024304064.1:n.-92-689G>A | |
| XM_024448297.1:c.-37-78G>A | XP_024304065.1:n.-37-78G>A | |
| XM_024448298.1:c.-92-689G>A | XP_024304066.1:n.-92-689G>A | |
| XM_024448299.1:c.-92-689G>A | XP_024304067.1:n.-92-689G>A | |
| XM_024448300.1:c.-92-689G>A | XP_024304068.1:n.-92-689G>A | |
| XM_024448302.1:c.-137-2139G>A | XP_024304070.1:n.-137-2139G>A | |
| NM_005693.4:c.-37-78G>A MANE Select | NP_005684.2:n.-37-78G>A | |
| NM_001130101.3:c.-37-78G>A | NP_001123573.1:n.-37-78G>A | |
| NM_001130102.3:c.-92-689G>A | NP_001123574.1:n.-92-689G>A | |
| NM_001363595.2:c.-92-689G>A | NP_001350524.1:n.-92-689G>A | |
| NM_001251934.2:c.62-689G>A | NP_001238863.1:n.62-689G>A | |
| NM_001251935.2:c.62-689G>A | NP_001238864.1:n.62-689G>A |