HGVS | Genome Assembly |
---|---|
NC_000002.12:g.46306171A>C , CM000664.2:g.46306171A>C | GRCh38 |
NC_000002.11:g.46533310A>C , CM000664.1:g.46533310A>C | GRCh37 |
NC_000002.10:g.46386814A>C | NCBI36 |
NG_016000.1:g.13770A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263734.5:c.26+8234A>C MANE Select | ENSP00000263734.3:n.26+8234A>C | |
ENST00000263734.4:c.26+8234A>C | ENSP00000263734.3:n.26+8234A>C | |
ENST00000449347.5:c.26+8234A>C | ENSP00000406137.1:n.26+8234A>C | |
ENST00000460015.1:n.432+12073A>C | ||
ENST00000467888.5:n.174+8234A>C | ||
NM_001430.4:c.26+8234A>C | NP_001421.2:n.26+8234A>C | |
XR_940055.1:n.2501+7922T>G | ||
NM_001430.5:c.26+8234A>C MANE Select | NP_001421.2:n.26+8234A>C |