HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99342809G>T , CM000666.2:g.99342809G>T | GRCh38 |
NC_000004.11:g.100263966G>T , CM000666.1:g.100263966G>T | GRCh37 |
NC_000004.10:g.100482989G>T | NCBI36 |
NG_011718.1:g.14952C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000515683.6:c.814C>A (ADH1C) MANE Select | ENSP00000426083.1:p.Arg272= | |
ENST00000639454.1:c.18+9849C>A (ADH1B) | ENSP00000491622.1:n.18+9849C>A | |
ENST00000515683.5:c.814C>A (ADH1C) | ENSP00000426083.1:p.Arg272= | |
NM_000669.4:c.814C>A (ADH1C) | NP_000660.1:p.Arg272= | |
NR_133005.1:n.1154+30C>A (ADH1C) | ||
XM_011531588.1:c.712C>A (ADH1C) | XP_011529890.1:p.Arg238= | |
XM_011531589.1:c.694C>A (ADH1C) | XP_011529891.1:p.Arg232= | |
NM_000669.5:c.814C>A (ADH1C) MANE Select | NP_000660.1:p.Arg272= | |
NR_133005.2:n.855+30C>A (ADH1C) |