HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176093625C>T , CM000664.2:g.176093625C>T | GRCh38 |
NC_000002.11:g.176958353C>T , CM000664.1:g.176958353C>T | GRCh37 |
NC_000002.10:g.176666599C>T | NCBI36 |
NG_008137.1:g.5822C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392539.4:c.735C>T MANE Select | ENSP00000376322.3:p.Thr245= | |
ENST00000392539.3:c.735C>T | ENSP00000376322.3:p.Thr245= | |
NM_000523.3:c.735C>T | NP_000514.2:p.Thr245= | |
XM_011511068.1:c.725-855C>T | XP_011509370.1:n.725-855C>T | |
XM_011511068.2:c.725-855C>T | XP_011509370.1:n.725-855C>T | |
NM_000523.4:c.735C>T MANE Select | NP_000514.2:p.Thr245= |