HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533996C>T , CM000681.2:g.7533996C>T | GRCh38 |
NC_000019.9:g.7598882C>T , CM000681.1:g.7598882C>T | GRCh37 |
NC_000019.8:g.7504882C>T | NCBI36 |
NG_013374.1:g.4845C>T | |
NG_015806.1:g.16387C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.*201C>T MANE Select | ENSP00000264079.5:n.*201C>T | |
ENST00000264079.10:c.*201C>T | ENSP00000264079.5:n.*201C>T | |
ENST00000601870.1:c.169+128C>T | ||
NM_020533.2:c.*201C>T | NP_065394.1:n.*201C>T | |
NM_020533.3:c.*201C>T MANE Select | NP_065394.1:n.*201C>T |