HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862722G>C , CM000666.2:g.4862722G>C | GRCh38 |
NC_000004.11:g.4864449G>C , CM000666.1:g.4864449G>C | GRCh37 |
NC_000004.10:g.4915350G>C | NCBI36 |
NG_008121.1:g.8058G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382723.5:c.491G>C MANE Select | ENSP00000372170.4:p.Cys164Ser | |
ENST00000382723.4:c.491G>C | ENSP00000372170.4:p.Cys164Ser | |
ENST00000468421.1:n.203G>C | ||
NM_002448.3:c.491G>C MANE Select | NP_002439.2:p.Cys164Ser |