HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17265251G>A , CM000663.2:g.17265251G>A | GRCh38 |
NC_000001.10:g.17591746G>A , CM000663.1:g.17591746G>A | GRCh37 |
NC_000001.9:g.17464333G>A | NCBI36 |
NG_052788.1:g.21173G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375460.3:c.347-408G>A MANE Select | ENSP00000364609.3:n.347-408G>A | |
NM_016233.2:c.347-408G>A MANE Select | NP_057317.2:n.347-408G>A | |
XM_006710684.2:c.233-408G>A | XP_006710747.1:n.233-408G>A | |
XM_011541571.1:c.233-408G>A | XP_011539873.1:n.233-408G>A | |
XM_011541572.1:c.347-408G>A | XP_011539874.1:n.347-408G>A | |
XM_011541571.2:c.233-408G>A | XP_011539873.1:n.233-408G>A | |
XM_011541572.2:c.347-408G>A | XP_011539874.1:n.347-408G>A |