Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86030334C>G , CM000664.2:g.86030334C>G | GRCh38 |
| NC_000002.11:g.86257457C>G , CM000664.1:g.86257457C>G | GRCh37 |
| NC_000002.10:g.86110968C>G | NCBI36 |
| NG_050742.2:g.80822G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.4641G>C MANE Select | ENSP00000263857.6:p.Leu1547Phe | |
| ENST00000263857.10:c.4641G>C | ENSP00000263857.6:p.Leu1547Phe | |
| ENST00000409681.1:c.4458G>C | ENSP00000386300.1:p.Leu1486Phe | |
| NM_015425.3:c.4641G>C | NP_056240.2:p.Leu1547Phe | |
| XM_006711983.2:c.4317G>C | XP_006712046.1:p.Leu1439Phe | |
| NM_015425.5:c.4641G>C | NP_056240.2:p.Leu1547Phe | |
| NM_015425.6:c.4641G>C MANE Select | NP_056240.2:p.Leu1547Phe |