Linked Data
dbSNP Id:
rs372412769
ExAC:
15:75042108 C / T
gnomAD v2:
15-75042108-C-T
gnomAD v3:
15-74749767-C-T
gnomAD v4:
15-74749767-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749767C>T , CM000677.2:g.74749767C>T | GRCh38 |
| NC_000015.9:g.75042108C>T , CM000677.1:g.75042108C>T | GRCh37 |
| NC_000015.8:g.72829161C>T | NCBI36 |
| NG_008431.1:g.32226C>T | |
| NG_008431.2:g.32226C>T | |
| NG_061543.1:g.5923C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.29C>T MANE Select | ENSP00000342007.4:p.Ser10Leu | |
| ENST00000343932.4:c.29C>T | ENSP00000342007.4:p.Ser10Leu | |
| NM_000761.4:c.29C>T | NP_000752.2:p.Ser10Leu | |
| NM_000761.5:c.29C>T MANE Select | NP_000752.2:p.Ser10Leu |