Linked Data
dbSNP Id:
rs10937355
gnomAD v2:
3-188289697-C-T
gnomAD v3:
3-188571909-C-T
gnomAD v4:
3-188571909-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.188571909C>T , CM000665.2:g.188571909C>T | GRCh38 |
| NC_000003.11:g.188289697C>T , CM000665.1:g.188289697C>T | GRCh37 |
| NC_000003.10:g.189772391C>T | NCBI36 |
| NG_016932.2:g.423035C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414139.6:c.430-37252C>T | ENSP00000392667.2:n.430-37252C>T | |
| ENST00000420410.6:c.430-37252C>T | ENSP00000405138.2:n.430-37252C>T | |
| ENST00000618621.5:c.430-37252C>T | ENSP00000482617.2:n.430-37252C>T | |
| ENST00000710845.1:c.430-37252C>T | ENSP00000518525.1:n.430-37252C>T | |
| ENST00000710846.1:n.110+2781C>T | ||
| ENST00000617246.5:c.430-37252C>T MANE Select | ENSP00000478901.1:n.430-37252C>T | |
| ENST00000640853.1:c.430-37252C>T | ENSP00000491657.1:n.430-37252C>T | |
| ENST00000416784.5:c.430-37252C>T | ENSP00000410340.1:n.430-37252C>T | |
| ENST00000448637.5:c.430-37252C>T | ENSP00000393602.1:n.430-37252C>T | |
| ENST00000462758.1:n.173+3587C>T | ||
| ENST00000471917.1:n.98+2781C>T | ||
| ENST00000494233.5:n.294-37252C>T | ||
| ENST00000617246.4:c.430-37252C>T | ENSP00000478901.1:n.430-37252C>T | |
| ENST00000618621.4:c.364-37252C>T | ENSP00000482617.1:n.364-37252C>T | |
| NM_001167671.2:c.430-37252C>T | NP_001161143.1:n.430-37252C>T | |
| NM_001167672.2:c.430-37252C>T | NP_001161144.1:n.430-37252C>T | |
| NM_005578.4:c.430-37252C>T | NP_005569.1:n.430-37252C>T | |
| XM_005247446.3:c.430-37252C>T | XP_005247503.1:n.430-37252C>T | |
| XM_005247450.3:c.430-37252C>T | XP_005247507.1:n.430-37252C>T | |
| XM_005247451.3:c.430-37252C>T | XP_005247508.1:n.430-37252C>T | |
| XM_005247453.1:c.430-37252C>T | XP_005247510.1:n.430-37252C>T | |
| XM_011512820.1:c.430-37252C>T | XP_011511122.1:n.430-37252C>T | |
| XM_011512821.1:c.430-37252C>T | XP_011511123.1:n.430-37252C>T | |
| XM_011512822.1:c.430-37252C>T | XP_011511124.1:n.430-37252C>T | |
| XM_011512823.1:c.505-37252C>T | XP_011511125.1:n.505-37252C>T | |
| XM_011512824.1:c.430-37252C>T | XP_011511126.1:n.430-37252C>T | |
| XM_011512825.1:c.430-37252C>T | XP_011511127.1:n.430-37252C>T | |
| XM_011512826.1:c.430-37252C>T | XP_011511128.1:n.430-37252C>T | |
| XM_011512827.1:c.430-37252C>T | XP_011511129.1:n.430-37252C>T | |
| XM_011512828.1:c.430-37252C>T | XP_011511130.1:n.430-37252C>T | |
| XM_011512829.1:c.430-37252C>T | XP_011511131.1:n.430-37252C>T | |
| XM_011512830.1:c.430-37252C>T | XP_011511132.1:n.430-37252C>T | |
| XM_011512831.1:c.430-37252C>T | XP_011511133.1:n.430-37252C>T | |
| XM_011512832.1:c.430-37252C>T | XP_011511134.1:n.430-37252C>T | |
| XM_011512833.1:c.430-37252C>T | XP_011511135.1:n.430-37252C>T | |
| XM_011512834.1:c.430-37252C>T | XP_011511136.1:n.430-37252C>T | |
| XM_011512835.1:c.430-37252C>T | XP_011511137.1:n.430-37252C>T | |
| XM_011512836.1:c.-61+2781C>T | XP_011511138.1:n.-61+2781C>T | |
| XM_005247446.4:c.430-37252C>T | XP_005247503.1:n.430-37252C>T | |
| XM_005247450.5:c.430-37252C>T | XP_005247507.1:n.430-37252C>T | |
| XM_005247451.4:c.430-37252C>T | XP_005247508.1:n.430-37252C>T | |
| XM_005247453.2:c.430-37252C>T | XP_005247510.1:n.430-37252C>T | |
| XM_011512820.3:c.430-37252C>T | XP_011511122.1:n.430-37252C>T | |
| XM_011512823.2:c.505-37252C>T | XP_011511125.1:n.505-37252C>T | |
| XM_011512827.2:c.430-37252C>T | XP_011511129.1:n.430-37252C>T | |
| XM_011512828.3:c.430-37252C>T | XP_011511130.1:n.430-37252C>T | |
| XM_011512831.3:c.430-37252C>T | XP_011511133.1:n.430-37252C>T | |
| XM_011512833.2:c.430-37252C>T | XP_011511135.1:n.430-37252C>T | |
| XM_011512834.3:c.430-37252C>T | XP_011511136.1:n.430-37252C>T | |
| XM_011512836.3:c.-61+2781C>T | XP_011511138.1:n.-61+2781C>T | |
| XM_017006377.1:c.430-37252C>T | XP_016861866.1:n.430-37252C>T | |
| XM_017006378.1:c.430-37252C>T | XP_016861867.1:n.430-37252C>T | |
| XM_017006379.2:c.430-37252C>T | XP_016861868.1:n.430-37252C>T | |
| XM_017006380.2:c.430-37252C>T | XP_016861869.1:n.430-37252C>T | |
| XM_017006381.1:c.430-37252C>T | XP_016861870.1:n.430-37252C>T | |
| XM_017006382.1:c.-60-37252C>T | XP_016861871.1:n.-60-37252C>T | |
| XM_024453519.1:c.430-37252C>T | XP_024309287.1:n.430-37252C>T | |
| XR_001740144.1:n.619-37252C>T | ||
| NM_001167671.3:c.430-37252C>T | NP_001161143.1:n.430-37252C>T | |
| NM_001167672.3:c.430-37252C>T | NP_001161144.1:n.430-37252C>T | |
| NM_001375455.1:c.430-37252C>T | NP_001362384.1:n.430-37252C>T | |
| NM_001375456.1:c.430-37252C>T | NP_001362385.1:n.430-37252C>T | |
| NM_001375457.1:c.430-37252C>T | NP_001362386.1:n.430-37252C>T | |
| NM_001375458.1:c.430-37252C>T | NP_001362387.1:n.430-37252C>T | |
| NM_001375459.1:c.430-37252C>T | NP_001362388.1:n.430-37252C>T | |
| NM_001375460.1:c.430-37252C>T | NP_001362389.1:n.430-37252C>T | |
| NM_001375461.1:c.430-37252C>T | NP_001362390.1:n.430-37252C>T | |
| NM_001375462.1:c.430-37252C>T MANE Select | NP_001362391.1:n.430-37252C>T | |
| NM_001375463.1:c.430-37252C>T | NP_001362392.1:n.430-37252C>T | |
| NM_001375464.1:c.430-37252C>T | NP_001362393.1:n.430-37252C>T | |
| NM_001375465.1:c.430-37252C>T | NP_001362394.1:n.430-37252C>T | |
| NM_005578.5:c.430-37252C>T | NP_005569.1:n.430-37252C>T | |
| NR_164692.1:n.686-37252C>T | ||
| NM_001387663.1:c.430-37252C>T | NP_001374592.1:n.430-37252C>T | |
| NM_001387664.1:c.430-37252C>T | NP_001374593.1:n.430-37252C>T | |
| NM_001387665.1:c.430-37252C>T | NP_001374594.1:n.430-37252C>T | |
| NM_001387666.1:c.430-37252C>T | NP_001374595.1:n.430-37252C>T | |
| NM_001387667.1:c.430-37252C>T | NP_001374596.1:n.430-37252C>T | |
| NM_001387668.1:c.430-37252C>T | NP_001374597.1:n.430-37252C>T | |
| NM_001387669.1:c.430-37252C>T | NP_001374598.1:n.430-37252C>T | |
| NM_001387670.1:c.430-37252C>T | NP_001374599.1:n.430-37252C>T | |
| NM_001387671.1:c.430-37252C>T | NP_001374600.1:n.430-37252C>T | |
| NM_001387672.1:c.430-37252C>T | NP_001374601.1:n.430-37252C>T | |
| NM_001387673.1:c.430-37252C>T | NP_001374602.1:n.430-37252C>T | |
| NM_001387674.1:c.430-37252C>T | NP_001374603.1:n.430-37252C>T | |
| NM_001387676.1:c.-61+2781C>T | NP_001374605.1:n.-61+2781C>T | |
| NM_001387677.1:c.430-37252C>T | NP_001374606.1:n.430-37252C>T | |
| NM_001387678.1:c.430-37252C>T | NP_001374607.1:n.430-37252C>T | |
| NM_001387679.1:c.430-37252C>T | NP_001374608.1:n.430-37252C>T | |
| NM_001387680.1:c.430-37252C>T | NP_001374609.1:n.430-37252C>T | |
| NM_001387681.1:c.430-37252C>T | NP_001374610.1:n.430-37252C>T | |
| NM_001387682.1:c.430-37252C>T | NP_001374611.1:n.430-37252C>T | |
| NM_001387683.1:c.430-37252C>T | NP_001374612.1:n.430-37252C>T |