HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67940599C>T , CM000678.2:g.67940599C>T | GRCh38 |
NC_000016.9:g.67974502C>T , CM000678.1:g.67974502C>T | GRCh37 |
NC_000016.8:g.66532003C>T | NCBI36 |
NG_009778.1:g.8514G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264005.10:c.749-121G>A MANE Select | ENSP00000264005.5:n.749-121G>A | |
ENST00000264005.9:c.749-121G>A | ENSP00000264005.5:n.749-121G>A | |
ENST00000570369.5:c.156-525G>A | ||
ENST00000570980.1:c.533-121G>A | ENSP00000464651.1:n.533-121G>A | |
ENST00000573538.5:c.487-121G>A | ENSP00000463220.1:n.487-121G>A | |
NM_000229.1:c.749-121G>A | NP_000220.1:n.749-121G>A | |
NM_000229.2:c.749-121G>A MANE Select | NP_000220.1:n.749-121G>A |