Linked Data
dbSNP Id:
rs764359866
ExAC:
15:75042096 C / A
gnomAD v2:
15-75042096-C-A
gnomAD v4:
15-74749755-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749755C>A , CM000677.2:g.74749755C>A | GRCh38 |
| NC_000015.9:g.75042096C>A , CM000677.1:g.75042096C>A | GRCh37 |
| NC_000015.8:g.72829149C>A | NCBI36 |
| NG_008431.1:g.32214C>A | |
| NG_008431.2:g.32214C>A | |
| NG_061543.1:g.5911C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.17C>A MANE Select | ENSP00000342007.4:p.Ser6Tyr | |
| ENST00000343932.4:c.17C>A | ENSP00000342007.4:p.Ser6Tyr | |
| NM_000761.4:c.17C>A | NP_000752.2:p.Ser6Tyr | |
| NM_000761.5:c.17C>A MANE Select | NP_000752.2:p.Ser6Tyr |