Linked Data
dbSNP Id:
rs2460905
gnomAD v2:
8-12834600-G-A
gnomAD v3:
8-12977091-G-A
gnomAD v4:
8-12977091-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.12977091G>A , CM000670.2:g.12977091G>A | GRCh38 |
| NC_000008.10:g.12834600G>A , CM000670.1:g.12834600G>A | GRCh37 |
| NC_000008.9:g.12878971G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528335.6:c.-199-13743G>A | ENSP00000518785.1:n.-199-13743G>A | |
| ENST00000524591.7:c.-199-13743G>A MANE Select | ENSP00000432695.1:n.-199-13743G>A | |
| ENST00000400069.7:c.-168-13743G>A | ENSP00000468715.1:n.-168-13743G>A | |
| ENST00000447063.6:c.-199-13743G>A | ENSP00000443288.1:n.-199-13743G>A | |
| ENST00000524591.6:c.-199-13743G>A | ENSP00000432695.1:n.-199-13743G>A | |
| ENST00000525249.1:n.447+6941G>A | ||
| ENST00000528335.5:n.350-13743G>A | ||
| ENST00000528753.2:c.-199-13743G>A | ENSP00000466330.1:n.-199-13743G>A | |
| ENST00000532376.2:c.-168-13743G>A | ENSP00000431717.2:n.-168-13743G>A | |
| NM_020844.2:c.-199-13743G>A | NP_065895.2:n.-199-13743G>A | |
| XM_005273584.3:c.40-13743G>A | XP_005273641.1:n.40-13743G>A | |
| XM_005273585.3:c.-108-13743G>A | XP_005273642.1:n.-108-13743G>A | |
| XM_005273586.3:c.-199-13743G>A | XP_005273643.1:n.-199-13743G>A | |
| XM_011544596.1:c.254+24733G>A | XP_011542898.1:n.254+24733G>A | |
| XM_011544597.1:c.254+24733G>A | XP_011542899.1:n.254+24733G>A | |
| XM_011544598.1:c.-108-13743G>A | XP_011542900.1:n.-108-13743G>A | |
| XM_011544599.1:c.-108-13743G>A | XP_011542901.1:n.-108-13743G>A | |
| XM_011544600.1:c.-109+6941G>A | XP_011542902.1:n.-109+6941G>A | |
| XM_011544601.1:c.-108-13743G>A | XP_011542903.1:n.-108-13743G>A | |
| XM_005273584.5:c.40-13743G>A | XP_005273641.1:n.40-13743G>A | |
| XM_005273585.4:c.-108-13743G>A | XP_005273642.1:n.-108-13743G>A | |
| XM_005273586.4:c.-199-13743G>A | XP_005273643.1:n.-199-13743G>A | |
| XM_005273588.5:c.-377-13743G>A | XP_005273645.1:n.-377-13743G>A | |
| XM_005273591.5:c.-408-13743G>A | XP_005273648.1:n.-408-13743G>A | |
| XM_011544596.3:c.254+24733G>A | XP_011542898.1:n.254+24733G>A | |
| XM_011544597.3:c.254+24733G>A | XP_011542899.1:n.254+24733G>A | |
| XM_011544598.2:c.-108-13743G>A | XP_011542900.1:n.-108-13743G>A | |
| XM_011544600.3:c.-109+6941G>A | XP_011542902.1:n.-109+6941G>A | |
| XM_011544601.3:c.-108-13743G>A | XP_011542903.1:n.-108-13743G>A | |
| XM_017013705.2:c.-200+6941G>A | XP_016869194.1:n.-200+6941G>A | |
| XM_017013706.2:c.-199-13743G>A | XP_016869195.1:n.-199-13743G>A | |
| XM_017013710.1:c.-433-13743G>A | XP_016869199.1:n.-433-13743G>A | |
| XM_017013714.2:c.-305-13743G>A | XP_016869203.1:n.-305-13743G>A | |
| XM_024447214.1:c.-109+6941G>A | XP_024302982.1:n.-109+6941G>A | |
| XM_024447215.1:c.-200+6941G>A | XP_024302983.1:n.-200+6941G>A | |
| XM_024447216.1:c.-377-13743G>A | XP_024302984.1:n.-377-13743G>A | |
| XM_024447219.1:c.-1097-13743G>A | XP_024302987.1:n.-1097-13743G>A | |
| NM_020844.3:c.-199-13743G>A MANE Select | NP_065895.2:n.-199-13743G>A |