HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128345268C>A , CM000671.2:g.128345268C>A | GRCh38 |
NC_000009.11:g.131107547C>A , CM000671.1:g.131107547C>A | GRCh37 |
NC_000009.10:g.130147368C>A | NCBI36 |
NG_017057.1:g.9709C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000300456.5:c.275C>A MANE Select | ENSP00000300456.3:p.Ala92Asp | |
ENST00000300456.4:c.275C>A | ENSP00000300456.3:p.Ala92Asp | |
ENST00000372870.5:c.231+1987C>A | ENSP00000361961.1:n.231+1987C>A | |
NM_005094.3:c.275C>A | NP_005085.2:p.Ala92Asp | |
XM_017014222.1:c.275C>A | XP_016869711.1:p.Ala92Asp | |
XM_024447391.1:c.275C>A | XP_024303159.1:p.Ala92Asp | |
NM_005094.4:c.275C>A MANE Select | NP_005085.2:p.Ala92Asp |