HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73914840C= , CM000664.2:g.73914840C= | GRCh38 |
NC_000002.11:g.74141967C= , CM000664.1:g.74141967C= | GRCh37 |
NC_000002.10:g.73995475C= | NCBI36 |
NG_034140.1:g.26875C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345517.8:c.774C= MANE Select | ENSP00000295137.3:p.Cys258= | |
ENST00000345517.7:c.774C= | ENSP00000295137.3:p.Cys258= | |
ENST00000409624.1:c.774C= | ENSP00000386857.1:p.Cys258= | |
ENST00000409731.7:c.645C= | ENSP00000386929.3:p.Cys215= | |
ENST00000438902.6:c.*839C= | ENSP00000410706.2:n.*839C= | |
NM_001199893.1:c.645C= | NP_001186822.1:p.Cys215= | |
NM_001615.3:c.774C= | NP_001606.1:p.Cys258= | |
NM_001199893.2:c.645C= | NP_001186822.1:p.Cys215= | |
NM_001615.4:c.774C= MANE Select | NP_001606.1:p.Cys258= |