Linked Data
dbSNP Id:
rs11223581
gnomAD v2:
11-100173537-A-G
gnomAD v3:
11-100302805-A-G
gnomAD v4:
11-100302805-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.100302805A>G , CM000673.2:g.100302805A>G | GRCh38 |
| NC_000011.9:g.100173537A>G , CM000673.1:g.100173537A>G | GRCh37 |
| NC_000011.8:g.99678747A>G | NCBI36 |
| NG_047156.1:g.1286830A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524871.6:c.2620+3409A>G MANE Select | ENSP00000435637.1:n.2620+3409A>G | |
| ENST00000279463.7:c.2572+3409A>G | ENSP00000279463.4:n.2572+3409A>G | |
| ENST00000418526.6:c.2398+3409A>G | ENSP00000393229.2:n.2398+3409A>G | |
| ENST00000524560.1:n.868+3409A>G | ||
| ENST00000524871.5:c.2620+3409A>G | ENSP00000435637.1:n.2620+3409A>G | |
| ENST00000527185.5:c.2620+3409A>G | ENSP00000433575.1:n.2620+3409A>G | |
| ENST00000528682.5:c.2620+3409A>G | ENSP00000436185.1:n.2620+3409A>G | |
| ENST00000619298.1:c.2386+3409A>G | ENSP00000478120.1:n.2386+3409A>G | |
| NM_001243270.1:c.2620+3409A>G | NP_001230199.1:n.2620+3409A>G | |
| NM_001243271.1:c.2620+3409A>G | NP_001230200.1:n.2620+3409A>G | |
| NM_014361.3:c.2620+3409A>G | NP_055176.1:n.2620+3409A>G | |
| NM_175566.2:c.2398+3409A>G | NP_780775.1:n.2398+3409A>G | |
| XM_011542871.1:c.2398+3409A>G | XP_011541173.1:n.2398+3409A>G | |
| XM_017017926.1:c.2620+3409A>G | XP_016873415.1:n.2620+3409A>G | |
| XR_001747909.1:n.3003+3409A>G | ||
| NM_014361.4:c.2620+3409A>G MANE Select | NP_055176.1:n.2620+3409A>G | |
| NM_001243270.2:c.2620+3409A>G | NP_001230199.1:n.2620+3409A>G | |
| NM_001243271.2:c.2620+3409A>G | NP_001230200.1:n.2620+3409A>G |