HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67585782G>A , CM000673.2:g.67585782G>A | GRCh38 |
NC_000011.9:g.67353253G>A , CM000673.1:g.67353253G>A | GRCh37 |
NC_000011.8:g.67109829G>A | NCBI36 |
NG_012075.1:g.7188G>A , LRG_723:g.7188G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.336+541G>A | ENSP00000381604.1:n.336+541G>A | |
ENST00000398606.10:c.337-322G>A MANE Select | ENSP00000381607.3:n.337-322G>A | |
ENST00000646888.1:c.*53-322G>A | ENSP00000494477.1:n.*53-322G>A | |
ENST00000398603.5:c.336+541G>A | ENSP00000381604.1:n.336+541G>A | |
ENST00000398606.7:c.337-322G>A | ENSP00000381607.3:n.337-322G>A | |
ENST00000467591.1:n.448-322G>A | ||
ENST00000494593.1:n.1132-322G>A | ||
ENST00000498765.5:c.400-322G>A | ||
NM_000852.3:c.337-322G>A , LRG_723t1:c.337-322G>A | NP_000843.1:n.337-322G>A | |
NM_000852.4:c.337-322G>A MANE Select | NP_000843.1:n.337-322G>A |