Linked Data
dbSNP Id:
rs1832007
gnomAD v2:
10-5254847-A-G
gnomAD v3:
10-5212884-A-G
gnomAD v4:
10-5212884-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5212884A>G , CM000672.2:g.5212884A>G | GRCh38 |
| NC_000010.10:g.5254847A>G , CM000672.1:g.5254847A>G | GRCh37 |
| NC_000010.9:g.5244847A>G | NCBI36 |
| NG_031872.1:g.21050A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263126.3:c.681-110A>G MANE Select | ENSP00000263126.1:n.681-110A>G | |
| ENST00000263126.2:c.681-110A>G | ENSP00000263126.1:n.681-110A>G | |
| ENST00000380448.5:c.681-110A>G | ENSP00000369814.1:n.681-110A>G | |
| NM_001818.3:c.681-110A>G | NP_001809.3:n.681-110A>G | |
| XM_011519303.1:c.726-110A>G | XP_011517605.1:n.726-110A>G | |
| NM_001818.4:c.681-110A>G | NP_001809.3:n.681-110A>G | |
| NM_001818.5:c.681-110A>G MANE Select | NP_001809.4:n.681-110A>G |