HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94942222A>C , CM000672.2:g.94942222A>C | GRCh38 |
NC_000010.10:g.96701979A>C , CM000672.1:g.96701979A>C | GRCh37 |
NC_000010.9:g.96691969A>C | NCBI36 |
NG_008385.1:g.8565A>C | |
NG_008385.2:g.9065A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.362A>C MANE Select | ENSP00000260682.6:p.Lys121Thr | |
ENST00000643112.1:c.362A>C | ENSP00000496202.1:p.Lys121Thr | |
ENST00000645207.1:n.515A>C | ||
ENST00000260682.6:c.362A>C | ENSP00000260682.6:p.Lys121Thr | |
ENST00000461906.1:n.387A>C | ||
ENST00000473496.1:n.133A>C | ||
NM_000771.3:c.362A>C | NP_000762.2:p.Lys121Thr | |
NM_000771.4:c.362A>C MANE Select | NP_000762.2:p.Lys121Thr |