Linked Data
dbSNP Id:
rs774282507
ExAC:
15:75042605 T / A
gnomAD v2:
15-75042605-T-A
gnomAD v3:
15-74750264-T-A
gnomAD v4:
15-74750264-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74750264T>A , CM000677.2:g.74750264T>A | GRCh38 |
| NC_000015.9:g.75042605T>A , CM000677.1:g.75042605T>A | GRCh37 |
| NC_000015.8:g.72829658T>A | NCBI36 |
| NG_008431.1:g.32723T>A | |
| NG_008431.2:g.32723T>A | |
| NG_061543.1:g.6420T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343932.5:c.526T>A MANE Select | ENSP00000342007.4:p.Leu176Met | |
| ENST00000343932.4:c.526T>A | ENSP00000342007.4:p.Leu176Met | |
| NM_000761.4:c.526T>A | NP_000752.2:p.Leu176Met | |
| NM_000761.5:c.526T>A MANE Select | NP_000752.2:p.Leu176Met |