Linked Data
dbSNP Id:
rs11637635
gnomAD v2:
15-78877150-A-G
gnomAD v3:
15-78584808-A-G
gnomAD v4:
15-78584808-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78584808A>G , CM000677.2:g.78584808A>G | GRCh38 |
| NC_000015.9:g.78877150A>G , CM000677.1:g.78877150A>G | GRCh37 |
| NC_000015.8:g.76664205A>G | NCBI36 |
| NG_023328.1:g.24289A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299565.9:c.259-1837A>G MANE Select | ENSP00000299565.5:n.259-1837A>G | |
| ENST00000394802.4:c.74-1837A>G | ||
| ENST00000559554.5:c.259-1837A>G | ENSP00000453519.1:n.259-1837A>G | |
| NM_000745.3:c.259-1837A>G | NP_000736.2:n.259-1837A>G | |
| NM_001307945.1:c.259-1837A>G | NP_001294874.1:n.259-1837A>G | |
| XM_005254142.2:c.259-1837A>G | XP_005254199.1:n.259-1837A>G | |
| NM_001307945.2:c.259-1837A>G | NP_001294874.1:n.259-1837A>G | |
| NM_000745.4:c.259-1837A>G MANE Select | NP_000736.2:n.259-1837A>G | |
| NM_001395171.1:c.259-1837A>G | NP_001382100.1:n.259-1837A>G | |
| NM_001395172.1:c.259-1837A>G | NP_001382101.1:n.259-1837A>G | |
| NM_001395173.1:c.259-1837A>G | NP_001382102.1:n.259-1837A>G | |
| NM_001395174.1:c.259-1837A>G | NP_001382103.1:n.259-1837A>G | |
| NM_001395175.1:c.256-1837A>G | NP_001382104.1:n.256-1837A>G |