HGVS | Genome Assembly |
---|---|
NC_000017.11:g.66228069A>C , CM000679.2:g.66228069A>C | GRCh38 |
NC_000017.10:g.64224187A>C , CM000679.1:g.64224187A>C | GRCh37 |
NC_000017.9:g.61654649A>C | NCBI36 |
NG_012045.1:g.6370T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000205948.11:c.192T>G MANE Select | ENSP00000205948.6:p.Phe64Leu | |
ENST00000205948.10:c.192T>G | ENSP00000205948.6:p.Phe64Leu | |
ENST00000577982.1:c.192T>G | ENSP00000464301.1:p.Phe64Leu | |
ENST00000581797.5:c.12T>G | ENSP00000463553.1:p.Phe4Leu | |
NM_000042.2:c.192T>G | NP_000033.2:p.Phe64Leu | |
NM_000042.3:c.192T>G MANE Select | NP_000033.2:p.Phe64Leu |