HGVS | Genome Assembly |
---|---|
NC_000010.11:g.129467283C>G , CM000672.2:g.129467283C>G | GRCh38 |
NC_000010.10:g.131265547C>G , CM000672.1:g.131265547C>G | GRCh37 |
NC_000010.9:g.131155537C>G | NCBI36 |
NG_052673.1:g.5100C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000306010.8:c.68C>G | ENSP00000302111.7:p.Thr23Ser | |
ENST00000651593.1:c.-26C>G MANE Select | ENSP00000498729.1:n.-26C>G | |
ENST00000306010.7:c.68C>G | ENSP00000302111.7:p.Thr23Ser | |
ENST00000482547.1:n.22C>G | ||
ENST00000482653.1:n.55C>G | ||
NM_002412.3:c.68C>G | NP_002403.2:p.Thr23Ser | |
NM_002412.4:c.68C>G | NP_002403.2:p.Thr23Ser | |
NM_002412.5:c.-26C>G MANE Select | NP_002403.3:n.-26C>G |