HGVS | Genome Assembly |
---|---|
NC_000005.10:g.71719665G>A , CM000667.2:g.71719665G>A | GRCh38 |
NC_000005.9:g.71015492G>A , CM000667.1:g.71015492G>A | GRCh37 |
NC_000005.8:g.71051248G>A | NCBI36 |
NG_015988.1:g.5503G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296777.5:c.159+213G>A MANE Select | ENSP00000296777.4:n.159+213G>A | |
ENST00000296777.4:c.159+213G>A | ENSP00000296777.4:n.159+213G>A | |
ENST00000513096.1:n.87G>A | ||
NM_004291.3:c.159+213G>A | NP_004282.1:n.159+213G>A | |
NM_004291.4:c.159+213G>A MANE Select | NP_004282.1:n.159+213G>A |