Linked Data
dbSNP Id:
rs1033558557
gnomAD v2:
11-8111254-A-G
gnomAD v3:
11-8089707-A-G
gnomAD v4:
11-8089707-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8089707A>G , CM000673.2:g.8089707A>G | GRCh38 |
| NC_000011.9:g.8111254A>G , CM000673.1:g.8111254A>G | GRCh37 |
| NC_000011.8:g.8067830A>G | NCBI36 |
| NG_029912.1:g.56075A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.90+46A>G MANE Select | ENSP00000299506.3:n.90+46A>G | |
| ENST00000299506.2:c.90+46A>G | ENSP00000299506.2:n.90+46A>G | |
| ENST00000305253.8:c.255+46A>G | ENSP00000305426.4:n.255+46A>G | |
| ENST00000534099.5:c.108+46A>G | ENSP00000434400.1:n.108+46A>G | |
| NM_003320.4:c.255+46A>G | NP_003311.2:n.255+46A>G | |
| NM_177972.2:c.90+46A>G | NP_813977.1:n.90+46A>G | |
| XM_005253109.2:c.216+46A>G | XP_005253166.1:n.216+46A>G | |
| XM_011520344.1:c.126+46A>G | XP_011518646.1:n.126+46A>G | |
| XM_005253109.3:c.216+46A>G | XP_005253166.1:n.216+46A>G | |
| XM_011520344.2:c.126+46A>G | XP_011518646.1:n.126+46A>G | |
| NM_177972.3:c.90+46A>G MANE Select | NP_813977.1:n.90+46A>G | |
| NM_003320.5:c.255+46A>G | NP_003311.2:n.255+46A>G |