HGVS | Genome Assembly |
---|---|
NC_000006.12:g.3225393G>T , CM000668.2:g.3225393G>T | GRCh38 |
NC_000006.11:g.3225627G>T , CM000668.1:g.3225627G>T | GRCh37 |
NC_000006.10:g.3170626G>T | NCBI36 |
NG_016715.1:g.7342C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000259818.8:c.696C>A MANE Select | ENSP00000259818.6:p.Thr232= | |
ENST00000680070.1:n.1626C>A | ||
ENST00000681707.1:n.1523C>A | ||
ENST00000681757.1:n.1001C>A | ||
ENST00000259818.7:c.696C>A | ENSP00000259818.6:p.Thr232= | |
ENST00000473006.1:n.813C>A | ||
NM_178012.4:c.696C>A | NP_821080.1:p.Thr232= | |
XM_011514571.1:c.480C>A | XP_011512873.1:p.Thr160= | |
NM_178012.5:c.696C>A MANE Select | NP_821080.1:p.Thr232= |