Linked Data
dbSNP Id:
rs60086777
ExAC:
15:75042122 C / T
gnomAD v2:
15-75042122-C-T
gnomAD v3:
15-74749781-C-T
gnomAD v4:
15-74749781-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74749781C>T , CM000677.2:g.74749781C>T | GRCh38 |
| NC_000015.9:g.75042122C>T , CM000677.1:g.75042122C>T | GRCh37 |
| NC_000015.8:g.72829175C>T | NCBI36 |
| NG_008431.1:g.32240C>T | |
| NG_008431.2:g.32240C>T | |
| NG_061543.1:g.5937C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343932.5:c.43C>T MANE Select | ENSP00000342007.4:p.Leu15Phe | |
| ENST00000343932.4:c.43C>T | ENSP00000342007.4:p.Leu15Phe | |
| NM_000761.4:c.43C>T | NP_000752.2:p.Leu15Phe | |
| NM_000761.5:c.43C>T MANE Select | NP_000752.2:p.Leu15Phe |