HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57562868C>T , CM000682.2:g.57562868C>T | GRCh38 |
NC_000020.10:g.56137924C>T , CM000682.1:g.56137924C>T | GRCh37 |
NC_000020.9:g.55571330C>T | NCBI36 |
NG_008205.1:g.6788C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.579C>T MANE Select | ENSP00000319814.4:p.Leu193= | |
ENST00000319441.5:c.579C>T | ENSP00000319814.4:p.Leu193= | |
ENST00000467047.1:n.1789C>T | ||
ENST00000470051.1:n.35C>T | ||
ENST00000498194.1:n.521C>T | ||
NM_002591.3:c.579C>T | NP_002582.3:p.Leu193= | |
XM_011528839.1:c.183C>T | XP_011527141.1:p.Leu61= | |
XM_024451888.1:c.183C>T | XP_024307656.1:p.Leu61= | |
NM_002591.4:c.579C>T MANE Select | NP_002582.3:p.Leu193= |