HGVS | Genome Assembly |
---|---|
NC_000017.11:g.13573786C>T , CM000679.2:g.13573786C>T | GRCh38 |
NC_000017.10:g.13477103C>T , CM000679.1:g.13477103C>T | GRCh37 |
NC_000017.9:g.13417828C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000284110.2:c.599+26745G>A MANE Select | ENSP00000284110.1:n.599+26745G>A | |
ENST00000284110.1:c.599+26745G>A | ENSP00000284110.1:n.599+26745G>A | |
NM_006042.2:c.599+26745G>A | NP_006033.1:n.599+26745G>A | |
NM_006042.3:c.599+26745G>A MANE Select | NP_006033.1:n.599+26745G>A |