HGVS | Genome Assembly |
---|---|
NC_000022.11:g.36564687G>A , CM000684.2:g.36564687G>A | GRCh38 |
NC_000022.10:g.36960734G>A , CM000684.1:g.36960734G>A | GRCh37 |
NC_000022.9:g.35290680G>A | NCBI36 |
NG_031861.1:g.142957C>T | |
NG_031861.2:g.143172C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300105.7:c.636C>T MANE Select | ENSP00000300105.6:p.Ala212= | |
ENST00000300105.6:c.636C>T | ENSP00000300105.6:p.Ala212= | |
NM_006078.3:c.636C>T | NP_006069.1:p.Ala212= | |
NM_006078.4:c.636C>T | NP_006069.1:p.Ala212= | |
XM_017028531.2:c.378C>T | XP_016884020.1:p.Ala126= | |
NM_001379051.1:c.567C>T | NP_001365980.1:p.Ala189= | |
NM_006078.5:c.636C>T MANE Select | NP_006069.1:p.Ala212= | |
NR_166440.1:n.2002C>T |