HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6718533C>T , CM000681.2:g.6718533C>T | GRCh38 |
NC_000019.9:g.6718544C>T , CM000681.1:g.6718544C>T | GRCh37 |
NC_000019.8:g.6669544C>T | NCBI36 |
NG_009557.1:g.7119G>A , LRG_27:g.7119G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000594936.2:n.329-121G>A | ||
ENST00000695652.1:c.145-121G>A | ENSP00000512083.1:n.145-121G>A | |
ENST00000695693.1:c.268-121G>A | ENSP00000512104.1:n.268-121G>A | |
ENST00000245907.11:c.268-121G>A MANE Select | ENSP00000245907.4:n.268-121G>A | |
ENST00000245907.10:c.268-121G>A | ENSP00000245907.4:n.268-121G>A | |
ENST00000594936.1:n.329-121G>A | ||
ENST00000600744.1:c.145-121G>A | ENSP00000472044.1:n.145-121G>A | |
NM_000064.3:c.268-121G>A | NP_000055.2:n.268-121G>A | |
NM_000064.4:c.268-121G>A MANE Select | NP_000055.2:n.268-121G>A |