HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25012955A>C , CM000685.2:g.25012955A>C | GRCh38 |
NC_000023.10:g.25031072A>C , CM000685.1:g.25031072A>C | GRCh37 |
NC_000023.9:g.24940993A>C | NCBI36 |
NG_008281.1:g.7994T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379044.5:c.1040T>G MANE Select | ENSP00000368332.4:p.Phe347Cys | |
ENST00000379044.4:c.1040T>G | ENSP00000368332.4:p.Phe347Cys | |
NM_139058.2:c.1040T>G | NP_620689.1:p.Phe347Cys | |
NM_139058.3:c.1040T>G MANE Select | NP_620689.1:p.Phe347Cys |