HGVS | Genome Assembly |
---|---|
NC_000011.10:g.61865657A>C , CM000673.2:g.61865657A>C | GRCh38 |
NC_000011.9:g.61633129A>C , CM000673.1:g.61633129A>C | GRCh37 |
NC_000011.8:g.61389705A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000278840.9:c.1303A>C MANE Select | ENSP00000278840.4:p.Lys435Gln | |
ENST00000257261.10:c.1237A>C | ENSP00000257261.6:p.Lys413Gln | |
ENST00000278840.8:c.1303A>C | ENSP00000278840.4:p.Lys435Gln | |
ENST00000522056.5:c.1210A>C | ENSP00000429500.1:p.Lys404Gln | |
ENST00000523235.5:n.3383A>C | ||
NM_001281501.1:c.1237A>C | NP_001268430.1:p.Lys413Gln | |
NM_001281502.1:c.1210A>C | NP_001268431.1:p.Lys404Gln | |
NM_004265.3:c.1303A>C | NP_004256.1:p.Lys435Gln | |
NM_004265.4:c.1303A>C MANE Select | NP_004256.1:p.Lys435Gln |