HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57562846A>C , CM000682.2:g.57562846A>C | GRCh38 |
NC_000020.10:g.56137902A>C , CM000682.1:g.56137902A>C | GRCh37 |
NC_000020.9:g.55571308A>C | NCBI36 |
NG_008205.1:g.6766A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.557A>C MANE Select | ENSP00000319814.4:p.Asp186Ala | |
ENST00000319441.5:c.557A>C | ENSP00000319814.4:p.Asp186Ala | |
ENST00000467047.1:n.1767A>C | ||
ENST00000470051.1:n.13A>C | ||
ENST00000498194.1:n.499A>C | ||
NM_002591.3:c.557A>C | NP_002582.3:p.Asp186Ala | |
XM_011528839.1:c.161A>C | XP_011527141.1:p.Asp54Ala | |
XM_024451888.1:c.161A>C | XP_024307656.1:p.Asp54Ala | |
NM_002591.4:c.557A>C MANE Select | NP_002582.3:p.Asp186Ala |