HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72124101C= , CM000679.2:g.72124101C= | GRCh38 |
NC_000017.10:g.70120242C= , CM000679.1:g.70120242C= | GRCh37 |
NC_000017.9:g.67631837C= | NCBI36 |
NG_012490.1:g.8082C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.1244C= MANE Select | ENSP00000245479.2:p.Pro415= | |
ENST00000245479.2:c.1244C= | ENSP00000245479.2:p.Pro415= | |
NM_000346.3:c.1244C= | NP_000337.1:p.Pro415= | |
NM_000346.4:c.1244C= MANE Select | NP_000337.1:p.Pro415= |