HGVS | Genome Assembly |
---|---|
NC_000020.11:g.45093056G>A , CM000682.2:g.45093056G>A | GRCh38 |
NC_000020.10:g.43721697G>A , CM000682.1:g.43721697G>A | GRCh37 |
NC_000020.9:g.43155111G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000537075.3:c.*1814C>T MANE Select | ENSP00000445595.1:n.*1814C>T | |
ENST00000306117.5:c.*1814C>T | ENSP00000307694.1:n.*1814C>T | |
NM_002251.3:c.*1814C>T | NP_002242.2:n.*1814C>T | |
XM_005260409.3:c.*1814C>T | XP_005260466.1:n.*1814C>T | |
NM_001322799.1:c.*1814C>T | NP_001309728.1:n.*1814C>T | |
NM_002251.4:c.*1814C>T | NP_002242.2:n.*1814C>T | |
XM_017027846.1:c.*1814C>T | XP_016883335.1:n.*1814C>T | |
NM_001322799.2:c.*1814C>T MANE Select | NP_001309728.1:n.*1814C>T | |
NM_002251.5:c.*1814C>T | NP_002242.2:n.*1814C>T |