HGVS | Genome Assembly |
---|---|
NC_000017.11:g.66228174T>G , CM000679.2:g.66228174T>G | GRCh38 |
NC_000017.10:g.64224292T>G , CM000679.1:g.64224292T>G | GRCh37 |
NC_000017.9:g.61654754T>G | NCBI36 |
NG_012045.1:g.6265A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000205948.11:c.87A>C MANE Select | ENSP00000205948.6:p.Leu29Phe | |
ENST00000205948.10:c.87A>C | ENSP00000205948.6:p.Leu29Phe | |
ENST00000577982.1:c.87A>C | ENSP00000464301.1:p.Leu29Phe | |
ENST00000581797.5:c.-94A>C | ENSP00000463553.1:n.-94A>C | |
NM_000042.2:c.87A>C | NP_000033.2:p.Leu29Phe | |
NM_000042.3:c.87A>C MANE Select | NP_000033.2:p.Leu29Phe |