Linked Data
dbSNP Id:
rs1384604001
gnomAD v2:
10-64288335-G-A
gnomAD v3:
10-62528576-G-A
gnomAD v4:
10-62528576-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62528576G>A , CM000672.2:g.62528576G>A | GRCh38 |
| NC_000010.10:g.64288335G>A , CM000672.1:g.64288335G>A | GRCh37 |
| NC_000010.9:g.63958341G>A | NCBI36 |
| NG_021209.1:g.159420G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647733.1:c.981+68779G>A | ENSP00000502188.1:n.981+68779G>A | |
| ENST00000395251.5:c.-185+7979G>A | ENSP00000378672.1:n.-185+7979G>A | |
| ENST00000410046.7:c.981+68779G>A | ENSP00000387091.3:n.981+68779G>A | |
| NM_199451.2:c.981+68779G>A | NP_955523.1:n.981+68779G>A | |
| NM_199452.3:c.-185+7979G>A | NP_955524.3:n.-185+7979G>A | |
| XM_017015937.2:c.982-15633G>A | XP_016871426.1:n.982-15633G>A | |
| NM_199451.3:c.981+68779G>A | NP_955523.1:n.981+68779G>A |