Linked Data
dbSNP Id:
rs339097
gnomAD v2:
7-128399224-A-G
gnomAD v3:
7-128759170-A-G
gnomAD v4:
7-128759170-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128759170A>G , CM000669.2:g.128759170A>G | GRCh38 |
| NC_000007.13:g.128399224A>G , CM000669.1:g.128399224A>G | GRCh37 |
| NC_000007.12:g.128186460A>G | NCBI36 |
| NG_033110.1:g.24879A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449187.7:c.582+133A>G | ENSP00000408838.2:n.582+133A>G | |
| ENST00000542996.7:c.606+133A>G | ENSP00000438248.1:n.606+133A>G | |
| ENST00000249364.9:c.582+133A>G MANE Select | ENSP00000249364.4:n.582+133A>G | |
| ENST00000249364.8:c.582+133A>G | ENSP00000249364.4:n.582+133A>G | |
| ENST00000449187.6:c.582+133A>G | ENSP00000408838.2:n.582+133A>G | |
| ENST00000479257.5:c.606+133A>G | ENSP00000420381.1:n.606+133A>G | |
| ENST00000493278.1:c.76+133A>G | ||
| ENST00000535011.6:c.582+133A>G | ENSP00000442110.1:n.582+133A>G | |
| ENST00000542996.6:c.606+133A>G | ENSP00000438248.1:n.606+133A>G | |
| NM_001130674.2:c.582+133A>G | NP_001124146.1:n.582+133A>G | |
| NM_001199671.1:c.606+133A>G | NP_001186600.1:n.606+133A>G | |
| NM_001199672.1:c.606+133A>G | NP_001186601.1:n.606+133A>G | |
| NM_001199673.1:c.582+133A>G | NP_001186602.1:n.582+133A>G | |
| NM_001219.4:c.582+133A>G | NP_001210.1:n.582+133A>G | |
| NR_074086.1:n.308+133A>G | ||
| XM_011516588.1:c.360+133A>G | XP_011514890.1:n.360+133A>G | |
| XM_017012659.1:c.129+133A>G | XP_016868148.1:n.129+133A>G | |
| NM_001219.5:c.582+133A>G MANE Select | NP_001210.1:n.582+133A>G | |
| NM_001130674.3:c.582+133A>G | NP_001124146.1:n.582+133A>G | |
| NM_001199671.2:c.606+133A>G | NP_001186600.1:n.606+133A>G | |
| NM_001199672.2:c.606+133A>G | NP_001186601.1:n.606+133A>G | |
| NM_001199673.2:c.582+133A>G | NP_001186602.1:n.582+133A>G | |
| NR_074086.2:n.241+133A>G |