HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72123666T>C , CM000679.2:g.72123666T>C | GRCh38 |
NC_000017.10:g.70119807T>C , CM000679.1:g.70119807T>C | GRCh37 |
NC_000017.9:g.67631402T>C | NCBI36 |
NG_012490.1:g.7647T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.809T>C MANE Select | ENSP00000245479.2:p.Phe270Ser | |
ENST00000245479.2:c.809T>C | ENSP00000245479.2:p.Phe270Ser | |
NM_000346.3:c.809T>C | NP_000337.1:p.Phe270Ser | |
NM_000346.4:c.809T>C MANE Select | NP_000337.1:p.Phe270Ser |