Linked Data
dbSNP Id:
rs1522232
gnomAD v2:
12-24394372-T-C
gnomAD v3:
12-24241438-T-C
gnomAD v4:
12-24241438-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.24241438T>C , CM000674.2:g.24241438T>C | GRCh38 |
| NC_000012.11:g.24394372T>C , CM000674.1:g.24394372T>C | GRCh37 |
| NC_000012.10:g.24285639T>C | NCBI36 |
| NG_029612.1:g.326009A>G | |
| NG_029612.2:g.326009A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704298.1:c.-76-28021A>G | ENSP00000515822.1:n.-76-28021A>G | |
| ENST00000704300.1:c.-2+35778A>G | ENSP00000515824.1:n.-2+35778A>G | |
| ENST00000446891.7:c.-76-28021A>G | ENSP00000494627.1:n.-76-28021A>G | |
| ENST00000536729.2:c.-76-28021A>G | ENSP00000496161.1:n.-76-28021A>G | |
| ENST00000646273.1:c.-76-28021A>G | ENSP00000493866.1:n.-76-28021A>G | |
| ENST00000659413.1:c.-150-28021A>G | ENSP00000499309.1:n.-150-28021A>G | |
| NM_001261414.1:c.-76-28021A>G | NP_001248343.1:n.-76-28021A>G | |
| NM_152989.3:c.-2+35778A>G | NP_694534.1:n.-2+35778A>G | |
| XM_011520834.1:c.-76-28021A>G | XP_011519136.1:n.-76-28021A>G | |
| XM_011520835.1:c.-2+35778A>G | XP_011519137.1:n.-2+35778A>G | |
| XM_011520836.1:c.-76-28021A>G | XP_011519138.1:n.-76-28021A>G | |
| XM_011520839.1:c.-76-28021A>G | XP_011519141.1:n.-76-28021A>G | |
| NM_001261414.2:c.-76-28021A>G | NP_001248343.1:n.-76-28021A>G | |
| NM_152989.4:c.-2+35778A>G | NP_694534.1:n.-2+35778A>G | |
| XM_011520834.2:c.-76-28021A>G | XP_011519136.1:n.-76-28021A>G | |
| XM_011520835.2:c.-2+35778A>G | XP_011519137.1:n.-2+35778A>G | |
| XM_017019890.1:c.-76-28021A>G | XP_016875379.1:n.-76-28021A>G | |
| XM_017019891.1:c.-76-28021A>G | XP_016875380.1:n.-76-28021A>G | |
| XM_017019892.1:c.-76-28021A>G | XP_016875381.1:n.-76-28021A>G | |
| XM_017019893.1:c.-2+127125A>G | XP_016875382.1:n.-2+127125A>G | |
| XM_017019896.1:c.-76-28021A>G | XP_016875385.1:n.-76-28021A>G | |
| XM_017019897.1:c.-76-28021A>G | XP_016875386.1:n.-76-28021A>G | |
| XM_017019898.1:c.-76-28021A>G | XP_016875387.1:n.-76-28021A>G | |
| XM_017019899.1:c.-2+35778A>G | XP_016875388.1:n.-2+35778A>G | |
| XM_024449150.1:c.-76-28021A>G | XP_024304918.1:n.-76-28021A>G | |
| XM_024449151.1:c.-76-28021A>G | XP_024304919.1:n.-76-28021A>G | |
| XM_024449152.1:c.-76-28021A>G | XP_024304920.1:n.-76-28021A>G | |
| XM_024449153.1:c.-76-28021A>G | XP_024304921.1:n.-76-28021A>G | |
| XM_024449154.1:c.-76-28021A>G | XP_024304922.1:n.-76-28021A>G | |
| XM_024449155.1:c.-2+35778A>G | XP_024304923.1:n.-2+35778A>G | |
| XM_024449157.1:c.-76-28021A>G | XP_024304925.1:n.-76-28021A>G | |
| XM_024449158.1:c.-76-28021A>G | XP_024304926.1:n.-76-28021A>G | |
| XM_024449159.1:c.-76-28021A>G | XP_024304927.1:n.-76-28021A>G | |
| XM_024449160.1:c.-76-28021A>G | XP_024304928.1:n.-76-28021A>G | |
| XM_024449161.1:c.-76-28021A>G | XP_024304929.1:n.-76-28021A>G | |
| XM_024449163.1:c.-76-28021A>G | XP_024304931.1:n.-76-28021A>G | |
| XM_024449164.1:c.-76-28021A>G | XP_024304932.1:n.-76-28021A>G | |
| XM_024449165.1:c.-76-28021A>G | XP_024304933.1:n.-76-28021A>G | |
| NM_001261414.3:c.-76-28021A>G | NP_001248343.1:n.-76-28021A>G | |
| NM_152989.5:c.-2+35778A>G | NP_694534.1:n.-2+35778A>G |