HGVS | Genome Assembly |
---|---|
NC_000001.11:g.20618473T>C , CM000663.2:g.20618473T>C | GRCh38 |
NC_000001.10:g.20944966T>C , CM000663.1:g.20944966T>C | GRCh37 |
NC_000001.9:g.20817553T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375071.4:c.346T>C MANE Select | ENSP00000364212.3:p.Tyr116His | |
ENST00000375071.3:c.346T>C | ENSP00000364212.3:p.Tyr116His | |
ENST00000461985.1:n.332T>C | ||
NM_001785.2:c.346T>C | NP_001776.1:p.Tyr116His | |
NM_001785.3:c.346T>C MANE Select | NP_001776.1:p.Tyr116His |