HGVS | Genome Assembly |
---|---|
NC_000014.9:g.105150721G>T , CM000676.2:g.105150721G>T | GRCh38 |
NC_000014.8:g.105617058G>T , CM000676.1:g.105617058G>T | GRCh37 |
NC_000014.7:g.104688103G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331782.8:c.1485C>A MANE Select | ENSP00000328169.3:p.Cys495Ter | |
ENST00000331782.7:c.1485C>A | ENSP00000328169.3:p.Cys495Ter | |
ENST00000347004.2:c.1371C>A | ENSP00000328566.2:p.Cys457Ter | |
NM_002226.4:c.1485C>A | NP_002217.3:p.Cys495Ter | |
NM_145159.2:c.1371C>A | NP_660142.1:p.Cys457Ter | |
XM_011536736.1:c.1485C>A | XP_011535038.1:p.Cys495Ter | |
XR_001750303.2:n.1546C>A | ||
NM_002226.5:c.1485C>A MANE Select | NP_002217.3:p.Cys495Ter | |
NM_145159.3:c.1371C>A | NP_660142.1:p.Cys457Ter |