HGVS | Genome Assembly |
---|---|
NC_000004.12:g.39446918G>C , CM000666.2:g.39446918G>C | GRCh38 |
NC_000004.11:g.39448538G>C , CM000666.1:g.39448538G>C | GRCh37 |
NC_000004.10:g.39124933G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000257408.5:c.2192G>C MANE Select | ENSP00000257408.4:p.Arg731Thr | |
ENST00000257408.4:c.2192G>C | ENSP00000257408.4:p.Arg731Thr | |
NM_175737.3:c.2192G>C | NP_783864.1:p.Arg731Thr | |
XM_005262644.1:c.2165G>C | XP_005262701.1:p.Arg722Thr | |
NM_175737.4:c.2192G>C MANE Select | NP_783864.1:p.Arg731Thr |