HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131861612G>A , CM000668.2:g.131861612G>A | GRCh38 |
NC_000006.11:g.132182752G>A , CM000668.1:g.132182752G>A | GRCh37 |
NC_000006.10:g.132224445G>A | NCBI36 |
NG_008206.1:g.58597G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647893.1:c.933G>A MANE Select | ENSP00000498074.1:p.Lys311= | |
ENST00000650147.1:c.550G>A | ||
ENST00000650437.1:c.424G>A | ||
ENST00000360971.6:c.933G>A | ENSP00000354238.2:p.Lys311= | |
ENST00000459624.1:n.3G>A | ||
ENST00000513998.5:c.933G>A | ENSP00000422424.1:p.Lys311= | |
NM_006208.2:c.933G>A | NP_006199.2:p.Lys311= | |
NM_006208.3:c.933G>A MANE Select | NP_006199.2:p.Lys311= |