Linked Data
gnomAD v4:
22-17085012-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17085012A>G , CM000684.2:g.17085012A>G | GRCh38 |
| NC_000022.10:g.17565902A>G , CM000684.1:g.17565902A>G | GRCh37 |
| NC_000022.9:g.15945902A>G | NCBI36 |
| NG_028257.1:g.5052A>G , LRG_355:g.5052A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000694948.1:n.19A>G | ||
| ENST00000694949.1:n.16A>G | ||
| ENST00000694950.1:c.1A>G | ||
| ENST00000319363.11:c.-80A>G MANE Select | ENSP00000320936.6:n.-80A>G | |
| ENST00000319363.10:c.-80A>G | ENSP00000320936.6:n.-80A>G | |
| ENST00000477874.1:n.59A>G | ||
| ENST00000612619.1:c.-80A>G | ENSP00000479970.1:n.-80A>G | |
| NM_001289905.1:c.-80A>G | NP_001276834.1:n.-80A>G | |
| NM_014339.6:c.-80A>G , LRG_355t1:c.-80A>G | NP_055154.3:n.-80A>G | |
| NM_014339.7:c.-80A>G MANE Select | NP_055154.3:n.-80A>G | |
| NM_001289905.2:c.-80A>G | NP_001276834.1:n.-80A>G |