HGVS | Genome Assembly |
---|---|
NC_000009.12:g.128325810G>C , CM000671.2:g.128325810G>C | GRCh38 |
NC_000009.11:g.131088089G>C , CM000671.1:g.131088089G>C | GRCh37 |
NC_000009.10:g.130127910G>C | NCBI36 |
NG_042101.1:g.8303G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000300452.8:c.331G>C MANE Select | ENSP00000300452.3:p.Asp111His | |
ENST00000300452.7:c.331G>C | ENSP00000300452.3:p.Asp111His | |
ENST00000372875.3:c.331G>C | ENSP00000361966.3:p.Asp111His | |
NM_001305942.1:c.234G>C | NP_001292871.1:p.Ser78= | |
NM_016035.3:c.331G>C | NP_057119.2:p.Asp111His | |
NM_016035.4:c.331G>C | NP_057119.2:p.Asp111His | |
XM_011518761.1:c.331G>C | XP_011517063.1:p.Asp111His | |
XR_929805.1:n.677G>C | ||
XM_017014792.1:c.234G>C | XP_016870281.1:p.Ser78= | |
XM_017014793.1:c.234G>C | XP_016870282.1:p.Ser78= | |
XR_001746316.2:n.584G>C | ||
XR_929805.3:n.677G>C | ||
NM_016035.5:c.331G>C MANE Select | NP_057119.3:p.Asp111His | |
NM_001305942.2:c.234G>C | NP_001292871.2:p.Ser78= |