HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6713507A>C , CM000681.2:g.6713507A>C | GRCh38 |
NC_000019.9:g.6713518A>C , CM000681.1:g.6713518A>C | GRCh37 |
NC_000019.8:g.6664518A>C | NCBI36 |
NG_009557.1:g.12145T>G , LRG_27:g.12145T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.653T>G | ENSP00000512083.1:p.Phe218Cys | |
ENST00000695692.1:n.100T>G | ||
ENST00000245907.11:c.776T>G MANE Select | ENSP00000245907.4:p.Phe259Cys | |
ENST00000245907.10:c.776T>G | ENSP00000245907.4:p.Phe259Cys | |
ENST00000595577.1:n.280T>G | ||
ENST00000597442.5:n.26T>G | ||
NM_000064.3:c.776T>G | NP_000055.2:p.Phe259Cys | |
NM_000064.4:c.776T>G MANE Select | NP_000055.2:p.Phe259Cys |