HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4862742A>C , CM000666.2:g.4862742A>C | GRCh38 |
NC_000004.11:g.4864469A>C , CM000666.1:g.4864469A>C | GRCh37 |
NC_000004.10:g.4915370A>C | NCBI36 |
NG_008121.1:g.8078A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.511A>C MANE Select | ENSP00000372170.4:p.Thr171Pro | |
ENST00000382723.4:c.511A>C | ENSP00000372170.4:p.Thr171Pro | |
ENST00000468421.1:n.223A>C | ||
NM_002448.3:c.511A>C MANE Select | NP_002439.2:p.Thr171Pro |