Linked Data
dbSNP Id:
rs10841530
gnomAD v2:
12-20599112-A-G
gnomAD v3:
12-20446178-A-G
gnomAD v4:
12-20446178-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20446178A>G , CM000674.2:g.20446178A>G | GRCh38 |
| NC_000012.11:g.20599112A>G , CM000674.1:g.20599112A>G | GRCh37 |
| NC_000012.10:g.20490379A>G | NCBI36 |
| NG_030033.1:g.81934A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359062.4:c.960+75934A>G MANE Select | ENSP00000351957.3:n.960+75934A>G | |
| ENST00000359062.3:c.960+75934A>G | ENSP00000351957.3:n.960+75934A>G | |
| ENST00000542675.1:n.120+75934A>G | ||
| NM_000921.4:c.960+75934A>G | NP_000912.3:n.960+75934A>G | |
| XM_006719086.2:c.960+75934A>G | XP_006719149.2:n.960+75934A>G | |
| XM_017019420.1:c.960+75934A>G | XP_016874909.1:n.960+75934A>G | |
| NM_000921.5:c.960+75934A>G MANE Select | NP_000912.3:n.960+75934A>G | |
| NM_001378407.1:c.960+75934A>G | NP_001365336.1:n.960+75934A>G | |
| NM_001378408.1:c.-68-58468A>G | NP_001365337.1:n.-68-58468A>G |