MyVariant.info:
GRCh38
chr10:g.133537858C>A
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133537858C>A , CM000672.2:g.133537858C>A | GRCh38 |
| NG_008383.1:g.15496C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1263C>A MANE Select | ENSP00000252945.3:p.Phe421Leu | |
| ENST00000252945.7:c.1263C>A | ENSP00000252945.3:p.Phe421Leu | |
| ENST00000368520.1:n.1324C>A | ||
| ENST00000418356.1:c.852C>A | ENSP00000397299.1:p.Phe284Leu | |
| ENST00000421586.5:c.1002C>A | ENSP00000412754.1:p.Phe334Leu | |
| ENST00000463117.6:c.1263C>A | ENSP00000440689.1:p.Phe421Leu | |
| ENST00000469258.1:n.359C>A | ||
| ENST00000541080.5:c.679C>A | ||
| NM_000773.3:c.1263C>A | NP_000764.1:p.Phe421Leu | |
| NM_000773.4:c.1263C>A MANE Select | NP_000764.1:p.Phe421Leu |