Linked Data
dbSNP Id:
rs1225432690
gnomAD v2:
11-67379235-A-G
gnomAD v3:
11-67611764-A-G
gnomAD v4:
11-67611764-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611764A>G , CM000673.2:g.67611764A>G | GRCh38 |
| NC_000011.9:g.67379235A>G , CM000673.1:g.67379235A>G | GRCh37 |
| NC_000011.8:g.67135811A>G | NCBI36 |
| NG_013353.1:g.9913A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.1081-133A>G MANE Select | ENSP00000322450.6:n.1081-133A>G | |
| ENST00000647561.1:c.1081-133A>G | ENSP00000497587.1:n.1081-133A>G | |
| ENST00000322776.10:c.1081-133A>G | ENSP00000322450.6:n.1081-133A>G | |
| ENST00000415352.6:c.1060-133A>G | ENSP00000395368.2:n.1060-133A>G | |
| ENST00000526169.1:n.704-133A>G | ||
| ENST00000526770.5:n.1364-133A>G | ||
| ENST00000527355.5:c.369+195A>G | ENSP00000432637.1:n.369+195A>G | |
| ENST00000527923.1:n.423-133A>G | ||
| ENST00000529927.5:c.1054-133A>G | ENSP00000436766.1:n.1054-133A>G | |
| ENST00000531250.1:n.212A>G | ||
| ENST00000532303.5:c.778-133A>G | ENSP00000432015.1:n.778-133A>G | |
| ENST00000533919.5:c.485-133A>G | ENSP00000435199.1:n.485-133A>G | |
| ENST00000534352.1:n.46A>G | ||
| NM_001166102.1:c.1054-133A>G | NP_001159574.1:n.1054-133A>G | |
| NM_007103.3:c.1081-133A>G | NP_009034.2:n.1081-133A>G | |
| NM_001166102.2:c.1054-133A>G | NP_001159574.1:n.1054-133A>G | |
| NM_007103.4:c.1081-133A>G MANE Select | NP_009034.2:n.1081-133A>G |