HGVS | Genome Assembly |
---|---|
NC_000017.11:g.72122804A= , CM000679.2:g.72122804A= | GRCh38 |
NC_000017.10:g.70118945A= , CM000679.1:g.70118945A= | GRCh37 |
NC_000017.9:g.67630540A= | NCBI36 |
NG_012490.1:g.6785A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245479.3:c.517A= MANE Select | ENSP00000245479.2:p.Lys173= | |
ENST00000245479.2:c.517A= | ENSP00000245479.2:p.Lys173= | |
NM_000346.3:c.517A= | NP_000337.1:p.Lys173= | |
NM_000346.4:c.517A= MANE Select | NP_000337.1:p.Lys173= |