HGVS | Genome Assembly |
---|---|
NC_000016.10:g.74713436G>A , CM000678.2:g.74713436G>A | GRCh38 |
NC_000016.9:g.74747334G>A , CM000678.1:g.74747334G>A | GRCh37 |
NC_000016.8:g.73304835G>A | NCBI36 |
NG_017070.1:g.66396C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219368.8:c.*754C>T MANE Select | ENSP00000219368.3:n.*754C>T | |
ENST00000219368.7:c.*754C>T | ENSP00000219368.3:n.*754C>T | |
ENST00000562145.1:n.1594C>T | ||
NM_024306.4:c.*754C>T | NP_077282.3:n.*754C>T | |
XM_011523319.1:c.*754C>T | XP_011521621.1:n.*754C>T | |
XM_011523319.2:c.*754C>T | XP_011521621.1:n.*754C>T | |
NM_024306.5:c.*754C>T MANE Select | NP_077282.3:n.*754C>T |