HGVS | Genome Assembly |
---|---|
NC_000023.11:g.46837157C>A , CM000685.2:g.46837157C>A | GRCh38 |
NC_000023.10:g.46696592C>A , CM000685.1:g.46696592C>A | GRCh37 |
NC_000023.9:g.46581536C>A | NCBI36 |
NG_009107.1:g.5246C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218340.4:c.57C>A MANE Select | ENSP00000218340.3:p.Asn19Lys | |
ENST00000218340.3:c.57C>A | ENSP00000218340.3:p.Asn19Lys | |
NM_006915.2:c.57C>A | NP_008846.2:p.Asn19Lys | |
NM_006915.3:c.57C>A MANE Select | NP_008846.2:p.Asn19Lys |