Linked Data
dbSNP Id:
rs2691529
gnomAD v2:
7-77803275-C-T
gnomAD v3:
7-78173958-C-T
gnomAD v4:
7-78173958-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.78173958C>T , CM000669.2:g.78173958C>T | GRCh38 |
| NC_000007.13:g.77803275C>T , CM000669.1:g.77803275C>T | GRCh37 |
| NC_000007.12:g.77641211C>T | NCBI36 |
| NG_011487.1:g.1284616G>A | |
| NG_011487.2:g.1284617G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354212.9:c.2403+4053G>A MANE Select | ENSP00000346151.4:n.2403+4053G>A | |
| ENST00000636178.1:c.1473+4053G>A | ENSP00000489709.1:n.1473+4053G>A | |
| ENST00000637282.1:c.1182+4053G>A | ENSP00000490637.1:n.1182+4053G>A | |
| ENST00000637441.1:c.2361+4053G>A | ENSP00000489633.1:n.2361+4053G>A | |
| ENST00000637486.1:c.*505+4053G>A | ENSP00000490080.1:n.*505+4053G>A | |
| ENST00000354212.8:c.2403+4053G>A | ENSP00000346151.4:n.2403+4053G>A | |
| ENST00000419488.5:c.2361+4053G>A | ENSP00000405766.1:n.2361+4053G>A | |
| ENST00000519748.5:c.1182+4053G>A | ENSP00000486774.1:n.1182+4053G>A | |
| ENST00000522342.3:c.57+4053G>A | ENSP00000486379.1:n.57+4053G>A | |
| ENST00000522391.3:c.2403+4053G>A | ENSP00000428389.1:n.2403+4053G>A | |
| ENST00000535697.5:c.1947+4053G>A | ENSP00000441603.3:n.1947+4053G>A | |
| ENST00000626691.2:c.1914+4053G>A | ENSP00000486131.1:n.1914+4053G>A | |
| ENST00000628361.1:c.318+4053G>A | ENSP00000486154.1:n.318+4053G>A | |
| ENST00000628980.2:c.1989+4053G>A | ENSP00000487526.1:n.1989+4053G>A | |
| ENST00000629359.2:c.1872+4053G>A | ENSP00000487448.1:n.1872+4053G>A | |
| NM_001301128.1:c.2361+4053G>A | NP_001288057.1:n.2361+4053G>A | |
| NM_012301.3:c.2403+4053G>A | NP_036433.2:n.2403+4053G>A | |
| XM_011516718.1:c.2403+4053G>A | XP_011515020.1:n.2403+4053G>A | |
| XM_011516719.1:c.2043+4053G>A | XP_011515021.1:n.2043+4053G>A | |
| XM_011516720.1:c.2043+4053G>A | XP_011515022.1:n.2043+4053G>A | |
| XM_011516721.1:c.1872+4053G>A | XP_011515023.1:n.1872+4053G>A | |
| XM_011516722.1:c.1863+4053G>A | XP_011515024.1:n.1863+4053G>A | |
| XM_011516723.1:c.2403+4053G>A | XP_011515025.1:n.2403+4053G>A | |
| XM_011516724.1:c.2403+4053G>A | XP_011515026.1:n.2403+4053G>A | |
| XM_011516725.1:c.2403+4053G>A | XP_011515027.1:n.2403+4053G>A | |
| XM_011516726.1:c.1359+4053G>A | XP_011515028.1:n.1359+4053G>A | |
| XM_011516727.1:c.1359+4053G>A | XP_011515029.1:n.1359+4053G>A | |
| XM_011516728.1:c.1230+4053G>A | XP_011515030.1:n.1230+4053G>A | |
| XM_011516729.1:c.1182+4053G>A | XP_011515031.1:n.1182+4053G>A | |
| XM_011516718.2:c.2403+4053G>A | XP_011515020.1:n.2403+4053G>A | |
| XM_011516719.3:c.2043+4053G>A | XP_011515021.1:n.2043+4053G>A | |
| XM_011516720.3:c.2043+4053G>A | XP_011515022.1:n.2043+4053G>A | |
| XM_011516726.3:c.1359+4053G>A | XP_011515028.1:n.1359+4053G>A | |
| XM_017012840.2:c.2532+4053G>A | XP_016868329.1:n.2532+4053G>A | |
| XM_017012841.2:c.2529+4053G>A | XP_016868330.1:n.2529+4053G>A | |
| XM_017012842.2:c.2526+4053G>A | XP_016868331.1:n.2526+4053G>A | |
| XM_017012843.2:c.2490+4053G>A | XP_016868332.1:n.2490+4053G>A | |
| XM_017012844.2:c.2532+4053G>A | XP_016868333.1:n.2532+4053G>A | |
| XM_017012845.2:c.2397+4053G>A | XP_016868334.1:n.2397+4053G>A | |
| XM_017012846.2:c.2361+4053G>A | XP_016868335.1:n.2361+4053G>A | |
| XM_017012847.2:c.2043+4053G>A | XP_016868336.1:n.2043+4053G>A | |
| XM_017012848.2:c.1914+4053G>A | XP_016868337.1:n.1914+4053G>A | |
| XM_017012849.2:c.1908+4053G>A | XP_016868338.1:n.1908+4053G>A | |
| XM_017012850.2:c.2532+4053G>A | XP_016868339.1:n.2532+4053G>A | |
| XM_017012851.2:c.2532+4053G>A | XP_016868340.1:n.2532+4053G>A | |
| XM_017012852.2:c.2532+4053G>A | XP_016868341.1:n.2532+4053G>A | |
| XM_024447009.1:c.2043+4053G>A | XP_024302777.1:n.2043+4053G>A | |
| NM_012301.4:c.2403+4053G>A MANE Select | NP_036433.2:n.2403+4053G>A | |
| NM_001301128.2:c.2361+4053G>A | NP_001288057.1:n.2361+4053G>A |