HGVS | Genome Assembly |
---|---|
NC_000008.11:g.119000461C>A , CM000670.2:g.119000461C>A | GRCh38 |
NC_000008.10:g.120012700C>A , CM000670.1:g.120012700C>A | GRCh37 |
NC_000008.9:g.120081881C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000521788.1:n.122+4888C>A | ||
XM_005250756.2:c.-60+48083C>A | XP_005250813.1:n.-60+48083C>A | |
NM_001324095.1:c.-323-36975C>A | NP_001311024.1:n.-323-36975C>A | |
XM_005250756.3:c.-60+48083C>A | XP_005250813.1:n.-60+48083C>A | |
NM_001324095.2:c.-323-36975C>A | NP_001311024.1:n.-323-36975C>A |