HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8159310C>T , CM000679.2:g.8159310C>T | GRCh38 |
NC_000017.10:g.8062628C>T , CM000679.1:g.8062628C>T | GRCh37 |
NC_000017.9:g.8003353C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000316509.11:c.*1545G>A MANE Select | ENSP00000314214.6:n.*1545G>A | |
ENST00000316509.10:c.*1545G>A | ENSP00000314214.6:n.*1545G>A | |
ENST00000498285.1:c.334+2163G>A | ENSP00000464383.1:n.334+2163G>A | |
NM_014232.2:c.*1545G>A | NP_055047.2:n.*1545G>A | |
XM_005256775.3:c.*1545G>A | XP_005256832.1:n.*1545G>A | |
NM_001330125.1:c.*1545G>A | NP_001317054.1:n.*1545G>A | |
NM_014232.3:c.*1545G>A MANE Select | NP_055047.2:n.*1545G>A |