Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61865678C>T , CM000673.2:g.61865678C>T | GRCh38 |
| NC_000011.9:g.61633150C>T , CM000673.1:g.61633150C>T | GRCh37 |
| NC_000011.8:g.61389726C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278840.9:c.1324C>T MANE Select | ENSP00000278840.4:p.Leu442Phe | |
| ENST00000257261.10:c.1258C>T | ENSP00000257261.6:p.Leu420Phe | |
| ENST00000278840.8:c.1324C>T | ENSP00000278840.4:p.Leu442Phe | |
| ENST00000522056.5:c.1231C>T | ENSP00000429500.1:p.Leu411Phe | |
| ENST00000523235.5:n.3404C>T | ||
| NM_001281501.1:c.1258C>T | NP_001268430.1:p.Leu420Phe | |
| NM_001281502.1:c.1231C>T | NP_001268431.1:p.Leu411Phe | |
| NM_004265.3:c.1324C>T | NP_004256.1:p.Leu442Phe | |
| NM_004265.4:c.1324C>T MANE Select | NP_004256.1:p.Leu442Phe |