HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4863105A>C , CM000666.2:g.4863105A>C | GRCh38 |
NC_000004.11:g.4864832A>C , CM000666.1:g.4864832A>C | GRCh37 |
NC_000004.10:g.4915733A>C | NCBI36 |
NG_008121.1:g.8441A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.874A>C MANE Select | ENSP00000372170.4:p.Thr292Pro | |
ENST00000382723.4:c.874A>C | ENSP00000372170.4:p.Thr292Pro | |
NM_002448.3:c.874A>C MANE Select | NP_002439.2:p.Thr292Pro |