HGVS | Genome Assembly |
---|---|
NC_000012.12:g.21174835C>A , CM000674.2:g.21174835C>A | GRCh38 |
NC_000012.11:g.21327769C>A , CM000674.1:g.21327769C>A | GRCh37 |
NC_000012.10:g.21219036C>A | NCBI36 |
NG_011745.1:g.48642C>A , LRG_1022:g.48642C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000256958.3:c.359+126C>A MANE Select | ENSP00000256958.2:n.359+126C>A | |
ENST00000256958.2:c.359+126C>A | ENSP00000256958.2:n.359+126C>A | |
ENST00000543498.5:c.426-1941C>A | ||
NM_006446.4:c.359+126C>A , LRG_1022t1:c.359+126C>A | NP_006437.3:n.359+126C>A | |
NM_006446.5:c.359+126C>A MANE Select | NP_006437.3:n.359+126C>A |