HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57565584C>T , CM000682.2:g.57565584C>T | GRCh38 |
NC_000020.10:g.56140640C>T , CM000682.1:g.56140640C>T | GRCh37 |
NC_000020.9:g.55574046C>T | NCBI36 |
NG_008205.1:g.9504C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.1649C>T MANE Select | ENSP00000319814.4:p.Thr550Ile | |
ENST00000319441.5:c.1649C>T | ENSP00000319814.4:p.Thr550Ile | |
ENST00000467047.1:n.4291C>T | ||
NM_002591.3:c.1649C>T | NP_002582.3:p.Thr550Ile | |
XM_011528839.1:c.1253C>T | XP_011527141.1:p.Thr418Ile | |
XM_024451888.1:c.1253C>T | XP_024307656.1:p.Thr418Ile | |
NM_002591.4:c.1649C>T MANE Select | NP_002582.3:p.Thr550Ile |