Linked Data
dbSNP Id:
rs892114006
gnomAD v2:
12-24102637-C-A
gnomAD v3:
12-23949703-C-A
gnomAD v4:
12-23949703-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.23949703C>A , CM000674.2:g.23949703C>A | GRCh38 |
| NC_000012.11:g.24102637C>A , CM000674.1:g.24102637C>A | GRCh37 |
| NC_000012.10:g.23993904C>A | NCBI36 |
| NG_029612.1:g.617744G>T | |
| NG_029612.2:g.617744G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704298.1:c.-1-53679G>T | ENSP00000515822.1:n.-1-53679G>T | |
| ENST00000704299.1:c.-119-5415G>T | ENSP00000515823.1:n.-119-5415G>T | |
| ENST00000704300.1:c.-1-53679G>T | ENSP00000515824.1:n.-1-53679G>T | |
| ENST00000446891.7:c.-1-53679G>T | ENSP00000494627.1:n.-1-53679G>T | |
| ENST00000536729.2:c.-1-53679G>T | ENSP00000496161.1:n.-1-53679G>T | |
| ENST00000646273.1:c.-1-53679G>T | ENSP00000493866.1:n.-1-53679G>T | |
| ENST00000659413.1:c.-1-53679G>T | ENSP00000499309.1:n.-1-53679G>T | |
| ENST00000367206.7:c.8+1166G>T | ENSP00000356174.3:n.8+1166G>T | |
| ENST00000381381.6:c.-141G>T | ENSP00000370788.2:n.-141G>T | |
| ENST00000441133.2:c.-60-42G>T | ENSP00000393240.2:n.-60-42G>T | |
| ENST00000451604.6:c.-102G>T | ENSP00000398273.2:n.-102G>T | |
| ENST00000541847.5:c.8+1166G>T | ENSP00000442119.1:n.8+1166G>T | |
| ENST00000545921.5:c.8+1166G>T | ENSP00000443520.1:n.8+1166G>T | |
| NM_001261414.1:c.-1-53679G>T | NP_001248343.1:n.-1-53679G>T | |
| NM_001261415.1:c.8+1166G>T | NP_001248344.1:n.8+1166G>T | |
| NM_006940.4:c.-102G>T | NP_008871.3:n.-102G>T | |
| NM_152989.3:c.-1-53679G>T | NP_694534.1:n.-1-53679G>T | |
| XM_006719149.2:c.-1-53679G>T | XP_006719212.1:n.-1-53679G>T | |
| XM_011520833.1:c.8+1166G>T | XP_011519135.1:n.8+1166G>T | |
| XM_011520834.1:c.-1-53679G>T | XP_011519136.1:n.-1-53679G>T | |
| XM_011520835.1:c.-1-53679G>T | XP_011519137.1:n.-1-53679G>T | |
| XM_011520836.1:c.1-53680G>T | XP_011519138.1:n.1-53680G>T | |
| XM_011520839.1:c.-1-53679G>T | XP_011519141.1:n.-1-53679G>T | |
| NM_001261414.2:c.-1-53679G>T | NP_001248343.1:n.-1-53679G>T | |
| NM_001261415.2:c.8+1166G>T | NP_001248344.1:n.8+1166G>T | |
| NM_001330785.1:c.-102G>T | NP_001317714.1:n.-102G>T | |
| NM_006940.5:c.-102G>T | NP_008871.3:n.-102G>T | |
| NM_152989.4:c.-1-53679G>T | NP_694534.1:n.-1-53679G>T | |
| XM_011520833.2:c.8+1166G>T | XP_011519135.1:n.8+1166G>T | |
| XM_011520834.2:c.-1-53679G>T | XP_011519136.1:n.-1-53679G>T | |
| XM_011520835.2:c.-1-53679G>T | XP_011519137.1:n.-1-53679G>T | |
| XM_017019888.1:c.133-42G>T | XP_016875377.1:n.133-42G>T | |
| XM_017019889.1:c.133-42G>T | XP_016875378.1:n.133-42G>T | |
| XM_017019890.1:c.-1-53679G>T | XP_016875379.1:n.-1-53679G>T | |
| XM_017019891.1:c.-1-53679G>T | XP_016875380.1:n.-1-53679G>T | |
| XM_017019892.1:c.-1-53679G>T | XP_016875381.1:n.-1-53679G>T | |
| XM_017019893.1:c.-1-53679G>T | XP_016875382.1:n.-1-53679G>T | |
| XM_017019894.1:c.-1-53679G>T | XP_016875383.1:n.-1-53679G>T | |
| XM_017019895.1:c.-2+690G>T | XP_016875384.1:n.-2+690G>T | |
| XM_017019896.1:c.-1-53679G>T | XP_016875385.1:n.-1-53679G>T | |
| XM_017019897.1:c.-1-53679G>T | XP_016875386.1:n.-1-53679G>T | |
| XM_017019898.1:c.-1-53679G>T | XP_016875387.1:n.-1-53679G>T | |
| XM_017019899.1:c.-1-53679G>T | XP_016875388.1:n.-1-53679G>T | |
| XM_017019900.1:c.-2+690G>T | XP_016875389.1:n.-2+690G>T | |
| XM_024449150.1:c.-1-53679G>T | XP_024304918.1:n.-1-53679G>T | |
| XM_024449151.1:c.-1-53679G>T | XP_024304919.1:n.-1-53679G>T | |
| XM_024449152.1:c.-1-53679G>T | XP_024304920.1:n.-1-53679G>T | |
| XM_024449153.1:c.-1-53679G>T | XP_024304921.1:n.-1-53679G>T | |
| XM_024449154.1:c.-1-53679G>T | XP_024304922.1:n.-1-53679G>T | |
| XM_024449155.1:c.-1-53679G>T | XP_024304923.1:n.-1-53679G>T | |
| XM_024449157.1:c.-1-53679G>T | XP_024304925.1:n.-1-53679G>T | |
| XM_024449158.1:c.-1-53679G>T | XP_024304926.1:n.-1-53679G>T | |
| XM_024449159.1:c.-1-53679G>T | XP_024304927.1:n.-1-53679G>T | |
| XM_024449160.1:c.-1-53679G>T | XP_024304928.1:n.-1-53679G>T | |
| XM_024449161.1:c.-1-53679G>T | XP_024304929.1:n.-1-53679G>T | |
| XM_024449163.1:c.-1-53679G>T | XP_024304931.1:n.-1-53679G>T | |
| XM_024449164.1:c.-1-53679G>T | XP_024304932.1:n.-1-53679G>T | |
| XM_024449165.1:c.-1-53679G>T | XP_024304933.1:n.-1-53679G>T | |
| NM_001261414.3:c.-1-53679G>T | NP_001248343.1:n.-1-53679G>T | |
| NM_152989.5:c.-1-53679G>T | NP_694534.1:n.-1-53679G>T | |
| NM_001261415.3:c.8+1166G>T | NP_001248344.1:n.8+1166G>T |