Linked Data
dbSNP Id:
rs16839553
gnomAD v2:
4-7018185-G-A
gnomAD v3:
4-7016458-G-A
gnomAD v4:
4-7016458-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.7016458G>A , CM000666.2:g.7016458G>A | GRCh38 |
| NC_000004.11:g.7018185G>A , CM000666.1:g.7018185G>A | GRCh37 |
| NC_000004.10:g.7069086G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409757.9:c.1757+1901G>A MANE Select | ENSP00000386921.4:n.1757+1901G>A | |
| ENST00000409757.8:c.1757+1901G>A | ENSP00000386921.4:n.1757+1901G>A | |
| ENST00000410031.5:c.1073+1901G>A | ENSP00000386343.1:n.1073+1901G>A | |
| ENST00000446947.6:c.737+1901G>A | ENSP00000405875.3:n.737+1901G>A | |
| ENST00000448507.5:c.1757+1901G>A | ENSP00000404041.1:n.1757+1901G>A | |
| ENST00000451522.6:c.917+1901G>A | ENSP00000388886.2:n.917+1901G>A | |
| NM_001113361.1:c.1757+1901G>A | NP_001106832.1:n.1757+1901G>A | |
| NM_001113363.1:c.917+1901G>A | NP_001106834.1:n.917+1901G>A | |
| NM_001286805.1:c.737+1901G>A | NP_001273734.1:n.737+1901G>A | |
| NM_020773.2:c.1757+1901G>A | NP_065824.2:n.1757+1901G>A | |
| XM_005247986.1:c.1685+1901G>A | XP_005248043.1:n.1685+1901G>A | |
| XM_006713895.2:c.1757+1901G>A | XP_006713958.1:n.1757+1901G>A | |
| XM_011513507.1:c.1859+1901G>A | XP_011511809.1:n.1859+1901G>A | |
| XM_011513508.1:c.1859+1901G>A | XP_011511810.1:n.1859+1901G>A | |
| XM_011513509.1:c.1859+1901G>A | XP_011511811.1:n.1859+1901G>A | |
| XM_011513510.1:c.1778+1901G>A | XP_011511812.1:n.1778+1901G>A | |
| XM_011513511.1:c.1676+1901G>A | XP_011511813.1:n.1676+1901G>A | |
| XM_011513512.1:c.1175+1901G>A | XP_011511814.1:n.1175+1901G>A | |
| XM_011513513.1:c.1019+1901G>A | XP_011511815.1:n.1019+1901G>A | |
| XR_241653.1:n.1710+1901G>A | ||
| NM_001330638.1:c.1073+1901G>A | NP_001317567.1:n.1073+1901G>A | |
| XM_005247986.3:c.1685+1901G>A | XP_005248043.1:n.1685+1901G>A | |
| XM_006713895.3:c.1757+1901G>A | XP_006713958.1:n.1757+1901G>A | |
| XM_011513507.3:c.1859+1901G>A | XP_011511809.1:n.1859+1901G>A | |
| XM_011513513.2:c.1019+1901G>A | XP_011511815.1:n.1019+1901G>A | |
| XM_017008477.1:c.1685+1901G>A | XP_016863966.1:n.1685+1901G>A | |
| XM_017008479.1:c.845+1901G>A | XP_016863968.1:n.845+1901G>A | |
| XM_017008480.1:c.839+1901G>A | XP_016863969.1:n.839+1901G>A | |
| NM_020773.3:c.1757+1901G>A MANE Select | NP_065824.2:n.1757+1901G>A | |
| NM_001113363.2:c.917+1901G>A | NP_001106834.1:n.917+1901G>A | |
| NM_001330638.2:c.1073+1901G>A | NP_001317567.1:n.1073+1901G>A | |
| NM_001113361.2:c.1757+1901G>A | NP_001106832.1:n.1757+1901G>A | |
| NM_001286805.2:c.737+1901G>A | NP_001273734.1:n.737+1901G>A |