HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25004869G>T , CM000685.2:g.25004869G>T | GRCh38 |
NC_000023.10:g.25022986G>T , CM000685.1:g.25022986G>T | GRCh37 |
NC_000023.9:g.24932907G>T | NCBI36 |
NG_008281.1:g.16080C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379044.5:c.1490C>A MANE Select | ENSP00000368332.4:p.Ala497Glu | |
ENST00000636885.1:n.78C>A | ||
ENST00000379044.4:c.1490C>A | ENSP00000368332.4:p.Ala497Glu | |
NM_139058.2:c.1490C>A | NP_620689.1:p.Ala497Glu | |
NM_139058.3:c.1490C>A MANE Select | NP_620689.1:p.Ala497Glu |