HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94949184T>A , CM000672.2:g.94949184T>A | GRCh38 |
NC_000010.10:g.96708941T>A , CM000672.1:g.96708941T>A | GRCh37 |
NC_000010.9:g.96698931T>A | NCBI36 |
NG_008385.1:g.15527T>A | |
NG_008385.2:g.16027T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.719T>A MANE Select | ENSP00000260682.6:p.Met240Lys | |
ENST00000643112.1:c.719T>A | ENSP00000496202.1:p.Met240Lys | |
ENST00000260682.6:c.719T>A | ENSP00000260682.6:p.Met240Lys | |
ENST00000473496.1:n.490T>A | ||
NM_000771.3:c.719T>A | NP_000762.2:p.Met240Lys | |
NM_000771.4:c.719T>A MANE Select | NP_000762.2:p.Met240Lys |