HGVS | Genome Assembly |
---|---|
NC_000020.11:g.38363545A>G , CM000682.2:g.38363545A>G | GRCh38 |
NC_000020.10:g.36992199A>G , CM000682.1:g.36992199A>G | GRCh37 |
NC_000020.9:g.36425613A>G | NCBI36 |
NG_034239.1:g.22135A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217407.3:c.653-430A>G MANE Select | ENSP00000217407.2:n.653-430A>G | |
ENST00000217407.2:c.653-430A>G | ENSP00000217407.2:n.653-430A>G | |
NM_004139.4:c.653-430A>G | NP_004130.2:n.653-430A>G | |
NM_004139.5:c.653-430A>G MANE Select | NP_004130.2:n.653-430A>G |