HGVS | Genome Assembly |
---|---|
NC_000023.11:g.30304734G>T , CM000685.2:g.30304734G>T | GRCh38 |
NC_000023.10:g.30322851G>T , CM000685.1:g.30322851G>T | GRCh37 |
NC_000023.9:g.30232772G>T | NCBI36 |
NG_009814.1:g.9645C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378970.5:c.1258C>A MANE Select | ENSP00000368253.4:p.Gln420Lys | |
ENST00000378970.4:c.1258C>A | ENSP00000368253.4:p.Gln420Lys | |
NM_000475.4:c.1258C>A | NP_000466.2:p.Gln420Lys | |
NM_000475.5:c.1258C>A MANE Select | NP_000466.2:p.Gln420Lys |