Linked Data
dbSNP Id:
rs1390401
gnomAD v2:
1-227797950-A-G
gnomAD v3:
1-227610249-A-G
gnomAD v4:
1-227610249-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.227610249A>G , CM000663.2:g.227610249A>G | GRCh38 |
| NC_000001.10:g.227797950A>G , CM000663.1:g.227797950A>G | GRCh37 |
| NC_000001.9:g.225864573A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343776.10:c.-163-36295A>G MANE Select | ENSP00000344828.4:n.-163-36295A>G | |
| ENST00000343776.9:c.-163-36295A>G | ENSP00000344828.4:n.-163-36295A>G | |
| ENST00000440339.1:c.123+27643A>G | ENSP00000394651.1:n.123+27643A>G | |
| ENST00000465266.1:n.267+27643A>G | ||
| ENST00000608949.5:c.-164+27643A>G | ENSP00000477097.1:n.-164+27643A>G | |
| NM_178549.3:c.123+27643A>G | NP_848644.2:n.123+27643A>G | |
| NR_033184.1:n.207-36295A>G | ||
| NR_102302.1:n.299+27643A>G | ||
| NM_001367909.1:c.-163-36295A>G MANE Select | NP_001354838.1:n.-163-36295A>G | |
| NM_001367910.1:c.-164+27643A>G | NP_001354839.1:n.-164+27643A>G | |
| NM_001367911.1:c.31-36295A>G | NP_001354840.1:n.31-36295A>G | |
| NM_178549.4:c.123+27643A>G | NP_848644.2:n.123+27643A>G | |
| NR_102302.2:n.262+27643A>G |