Linked Data
dbSNP Id:
rs11465886
gnomAD v2:
3-10250783-A-G
gnomAD v3:
3-10209099-A-G
gnomAD v4:
3-10209099-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10209099A>G , CM000665.2:g.10209099A>G | GRCh38 |
| NC_000003.11:g.10250783A>G , CM000665.1:g.10250783A>G | GRCh37 |
| NC_000003.10:g.10225783A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256458.5:c.425-490A>G MANE Select | ENSP00000256458.4:n.425-490A>G | |
| ENST00000256458.4:c.425-490A>G | ENSP00000256458.4:n.425-490A>G | |
| NM_001570.3:c.425-490A>G | NP_001561.3:n.425-490A>G | |
| XM_011533680.1:c.278-490A>G | XP_011531982.1:n.278-490A>G | |
| XR_245126.2:n.498-490A>G | ||
| NM_001570.4:c.425-490A>G MANE Select | NP_001561.3:n.425-490A>G |