Linked Data
dbSNP Id:
rs377141209
ExAC:
15:75042425 C / T
gnomAD v2:
15-75042425-C-T
gnomAD v4:
15-74750084-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750084C>T , CM000677.2:g.74750084C>T | GRCh38 |
| NC_000015.9:g.75042425C>T , CM000677.1:g.75042425C>T | GRCh37 |
| NC_000015.8:g.72829478C>T | NCBI36 |
| NG_008431.1:g.32543C>T | |
| NG_008431.2:g.32543C>T | |
| NG_061543.1:g.6240C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.346C>T MANE Select | ENSP00000342007.4:p.Leu116Phe | |
| ENST00000343932.4:c.346C>T | ENSP00000342007.4:p.Leu116Phe | |
| NM_000761.4:c.346C>T | NP_000752.2:p.Leu116Phe | |
| NM_000761.5:c.346C>T MANE Select | NP_000752.2:p.Leu116Phe |