HGVS | Genome Assembly |
---|---|
NC_000020.11:g.45093023C>T , CM000682.2:g.45093023C>T | GRCh38 |
NC_000020.10:g.43721664C>T , CM000682.1:g.43721664C>T | GRCh37 |
NC_000020.9:g.43155078C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000537075.3:c.*1847G>A MANE Select | ENSP00000445595.1:n.*1847G>A | |
ENST00000306117.5:c.*1847G>A | ENSP00000307694.1:n.*1847G>A | |
NM_002251.3:c.*1847G>A | NP_002242.2:n.*1847G>A | |
XM_005260409.3:c.*1847G>A | XP_005260466.1:n.*1847G>A | |
NM_001322799.1:c.*1847G>A | NP_001309728.1:n.*1847G>A | |
NM_002251.4:c.*1847G>A | NP_002242.2:n.*1847G>A | |
XM_017027846.1:c.*1847G>A | XP_016883335.1:n.*1847G>A | |
NM_001322799.2:c.*1847G>A MANE Select | NP_001309728.1:n.*1847G>A | |
NM_002251.5:c.*1847G>A | NP_002242.2:n.*1847G>A |