Linked Data
dbSNP Id:
rs1938781
gnomAD v2:
11-58915110-A-G
gnomAD v3:
11-59147637-A-G
gnomAD v4:
11-59147637-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59147637A>G , CM000673.2:g.59147637A>G | GRCh38 |
| NC_000011.9:g.58915110A>G , CM000673.1:g.58915110A>G | GRCh37 |
| NC_000011.8:g.58671686A>G | NCBI36 |
| NG_042835.1:g.9892A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420244.6:c.-76-1160A>G | ENSP00000406683.1:n.-76-1160A>G | |
| ENST00000527629.6:c.-169-1067A>G | ENSP00000436128.2:n.-169-1067A>G | |
| ENST00000529985.3:c.-76-1160A>G | ENSP00000502754.2:n.-76-1160A>G | |
| ENST00000531408.6:c.-37-1199A>G | ENSP00000432821.2:n.-37-1199A>G | |
| ENST00000675806.2:c.-37-1199A>G | ENSP00000501617.2:n.-37-1199A>G | |
| ENST00000682018.1:c.-37-1199A>G | ENSP00000507215.1:n.-37-1199A>G | |
| ENST00000684135.1:c.-39-4113A>G | ENSP00000508374.1:n.-39-4113A>G | |
| ENST00000529985.2:c.-76-1160A>G | ENSP00000502754.1:n.-76-1160A>G | |
| ENST00000674617.1:c.-37-1199A>G | ENSP00000501786.1:n.-37-1199A>G | |
| ENST00000675163.1:c.-76-1160A>G MANE Select | ENSP00000501952.1:n.-76-1160A>G | |
| ENST00000675806.1:c.-37-1199A>G | ENSP00000501617.1:n.-37-1199A>G | |
| ENST00000676340.1:c.-37-1199A>G | ENSP00000501909.1:n.-37-1199A>G | |
| ENST00000676459.1:c.-76-1160A>G | ENSP00000501771.1:n.-76-1160A>G | |
| ENST00000361723.7:c.-76-1160A>G | ENSP00000355264.3:n.-76-1160A>G | |
| ENST00000420244.5:c.-37-1199A>G | ENSP00000406683.1:n.-37-1199A>G | |
| ENST00000527629.5:c.-169-1067A>G | ENSP00000436128.1:n.-169-1067A>G | |
| ENST00000528737.5:c.-37-1199A>G | ENSP00000434435.1:n.-37-1199A>G | |
| ENST00000529358.1:n.70-1067A>G | ||
| ENST00000531408.5:c.-37-1199A>G | ENSP00000432821.1:n.-37-1199A>G | |
| ENST00000532790.5:n.367-1160A>G | ||
| ENST00000533703.1:c.-37-1199A>G | ENSP00000433154.1:n.-37-1199A>G | |
| NM_001142519.1:c.-37-1199A>G | NP_001135991.1:n.-37-1199A>G | |
| NM_001142519.2:c.-37-1199A>G | NP_001135991.1:n.-37-1199A>G | |
| NM_001142520.1:c.-37-1199A>G | NP_001135992.1:n.-37-1199A>G | |
| NM_001142520.2:c.-37-1199A>G | NP_001135992.1:n.-37-1199A>G | |
| NM_001142521.1:c.-37-1199A>G | NP_001135993.1:n.-37-1199A>G | |
| NM_001142521.2:c.-37-1199A>G | NP_001135993.1:n.-37-1199A>G | |
| NM_001312909.1:c.-76-1160A>G | NP_001299838.1:n.-76-1160A>G | |
| NM_001312910.1:c.-76-1160A>G | NP_001299839.1:n.-76-1160A>G | |
| NM_001312911.1:c.-169-1067A>G | NP_001299840.1:n.-169-1067A>G | |
| NM_022074.3:c.-76-1160A>G | NP_071357.2:n.-76-1160A>G | |
| NM_198847.2:c.-37-1199A>G | NP_942144.1:n.-37-1199A>G | |
| NM_001142519.3:c.-37-1199A>G | NP_001135991.1:n.-37-1199A>G | |
| NM_001142520.3:c.-37-1199A>G | NP_001135992.1:n.-37-1199A>G | |
| NM_001142521.3:c.-37-1199A>G | NP_001135993.1:n.-37-1199A>G | |
| NM_001312909.2:c.-76-1160A>G MANE Select | NP_001299838.1:n.-76-1160A>G | |
| NM_001312910.2:c.-76-1160A>G | NP_001299839.1:n.-76-1160A>G | |
| NM_001312911.2:c.-169-1067A>G | NP_001299840.1:n.-169-1067A>G | |
| NM_001369457.1:c.-29-1207A>G | NP_001356386.1:n.-29-1207A>G | |
| NM_001374804.1:c.-37-1199A>G | NP_001361733.1:n.-37-1199A>G | |
| NM_001374848.1:c.-37-1199A>G | NP_001361777.1:n.-37-1199A>G | |
| NM_001374849.1:c.-169-1067A>G | NP_001361778.1:n.-169-1067A>G | |
| NM_001374850.1:c.-76-1160A>G | NP_001361779.1:n.-76-1160A>G | |
| NM_001374851.1:c.-76-1160A>G | NP_001361780.1:n.-76-1160A>G | |
| NM_001374852.1:c.-29-1207A>G | NP_001361781.1:n.-29-1207A>G | |
| NM_001374853.1:c.-37-1199A>G | NP_001361782.1:n.-37-1199A>G | |
| NM_001374854.1:c.-76-1160A>G | NP_001361783.1:n.-76-1160A>G | |
| NM_001374855.1:c.-76-1160A>G | NP_001361784.1:n.-76-1160A>G | |
| NM_001374856.1:c.-37-1199A>G | NP_001361785.1:n.-37-1199A>G | |
| NM_001374857.1:c.-37-1199A>G | NP_001361786.1:n.-37-1199A>G | |
| NM_001374858.1:c.-76-1160A>G | NP_001361787.1:n.-76-1160A>G | |
| NM_001374859.1:c.-29-1207A>G | NP_001361788.1:n.-29-1207A>G | |
| NM_001374860.1:c.-37-1199A>G | NP_001361789.1:n.-37-1199A>G | |
| NM_001374861.1:c.-76-1160A>G | NP_001361790.1:n.-76-1160A>G | |
| NM_001374862.1:c.-37-1199A>G | NP_001361791.1:n.-37-1199A>G | |
| NM_001374863.1:c.-76-1160A>G | NP_001361792.1:n.-76-1160A>G | |
| NM_001374864.1:c.-76-1160A>G | NP_001361793.1:n.-76-1160A>G | |
| NM_001374865.1:c.-76-1160A>G | NP_001361794.1:n.-76-1160A>G | |
| NM_001374866.1:c.-169-1067A>G | NP_001361795.1:n.-169-1067A>G | |
| NM_001374867.1:c.-76-1160A>G | NP_001361796.1:n.-76-1160A>G | |
| NM_001374868.1:c.-37-1199A>G | NP_001361797.1:n.-37-1199A>G | |
| NM_001374869.1:c.-76-1160A>G | NP_001361798.1:n.-76-1160A>G | |
| NM_001374870.1:c.-37-1199A>G | NP_001361799.1:n.-37-1199A>G | |
| NM_022074.4:c.-76-1160A>G | NP_071357.2:n.-76-1160A>G | |
| NM_198847.3:c.-37-1199A>G | NP_942144.1:n.-37-1199A>G |