Linked Data
dbSNP Id:
rs778281973
ExAC:
15:78882929 C / G
gnomAD v2:
15-78882929-C-G
gnomAD v4:
15-78590587-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78590587C>G , CM000677.2:g.78590587C>G | GRCh38 |
| NC_000015.9:g.78882929C>G , CM000677.1:g.78882929C>G | GRCh37 |
| NC_000015.8:g.76669984C>G | NCBI36 |
| NG_023328.1:g.30068C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299565.9:c.1196C>G MANE Select | ENSP00000299565.5:p.Ser399Cys | |
| ENST00000394802.4:c.522+489C>G | ||
| ENST00000559554.5:c.458+738C>G | ENSP00000453519.1:n.458+738C>G | |
| ENST00000559576.1:c.145+81C>G | ||
| NM_000745.3:c.1196C>G | NP_000736.2:p.Ser399Cys | |
| NM_001307945.1:c.458+738C>G | NP_001294874.1:n.458+738C>G | |
| XM_005254142.2:c.707+489C>G | XP_005254199.1:n.707+489C>G | |
| NM_001307945.2:c.458+738C>G | NP_001294874.1:n.458+738C>G | |
| NM_000745.4:c.1196C>G MANE Select | NP_000736.2:p.Ser399Cys | |
| NM_001395171.1:c.1115+81C>G | NP_001382100.1:n.1115+81C>G | |
| NM_001395172.1:c.591+605C>G | NP_001382101.1:n.591+605C>G | |
| NM_001395173.1:c.713+483C>G | NP_001382102.1:n.713+483C>G | |
| NM_001395174.1:c.707+489C>G | NP_001382103.1:n.707+489C>G | |
| NM_001395175.1:c.455+738C>G | NP_001382104.1:n.455+738C>G |