HGVS | Genome Assembly |
---|---|
NC_000016.10:g.89919760A= , CM000678.2:g.89919760A= | GRCh38 |
NC_000016.9:g.89986168A= , CM000678.1:g.89986168A= | GRCh37 |
NC_000016.8:g.88513669A= | NCBI36 |
NG_012026.1:g.6882A= | |
NG_027810.1:g.2752A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555147.2:c.502A= MANE Select | ENSP00000451605.1:p.Ile168= | |
ENST00000639847.1:c.502A= | ENSP00000492011.1:p.Ile168= | |
ENST00000555147.1:c.502A= | ENSP00000451605.1:p.Ile168= | |
ENST00000555427.1:c.502A= | ENSP00000451760.1:p.Ile168= | |
ENST00000556922.1:c.502A= | ENSP00000451560.1:p.Ile168= | |
NM_002386.3:c.502A= | NP_002377.4:p.Ile168= | |
NM_002386.4:c.502A= MANE Select | NP_002377.4:p.Ile168= |