Linked Data
dbSNP Id:
rs1020294
gnomAD v2:
18-12017343-A-G
gnomAD v3:
18-12017344-A-G
gnomAD v4:
18-12017344-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12017344A>G , CM000680.2:g.12017344A>G | GRCh38 |
| NC_000018.9:g.12017343A>G , CM000680.1:g.12017343A>G | GRCh37 |
| NC_000018.8:g.12007343A>G | NCBI36 |
| NG_028104.1:g.40889A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269159.8:c.490+2971A>G MANE Select | ENSP00000269159.3:n.490+2971A>G | |
| ENST00000269159.7:c.490+2971A>G | ENSP00000269159.3:n.490+2971A>G | |
| ENST00000383376.9:c.*492-270A>G | ENSP00000372867.4:n.*492-270A>G | |
| ENST00000586230.1:c.212+2971A>G | ||
| ENST00000588167.1:n.243+2971A>G | ||
| ENST00000588752.5:n.575+2971A>G | ||
| ENST00000588927.5:c.-78+2971A>G | ENSP00000464767.1:n.-78+2971A>G | |
| ENST00000589238.5:c.-78+2971A>G | ENSP00000465416.1:n.-78+2971A>G | |
| ENST00000590107.5:c.*132+2971A>G | ENSP00000466059.1:n.*132+2971A>G | |
| ENST00000590138.1:c.*93+2971A>G | ENSP00000465938.1:n.*93+2971A>G | |
| NM_014214.2:c.490+2971A>G | NP_055029.1:n.490+2971A>G | |
| XM_011525659.1:c.442+2971A>G | XP_011523961.1:n.442+2971A>G | |
| XM_011525660.1:c.418+2971A>G | XP_011523962.1:n.418+2971A>G | |
| XM_011525661.1:c.130+2971A>G | XP_011523963.1:n.130+2971A>G | |
| XM_011525659.3:c.442+2971A>G | XP_011523961.1:n.442+2971A>G | |
| XM_011525661.3:c.130+2971A>G | XP_011523963.1:n.130+2971A>G | |
| NM_014214.3:c.490+2971A>G MANE Select | NP_055029.1:n.490+2971A>G |