HGVS | Genome Assembly |
---|---|
NC_000008.11:g.86575986G>T , CM000670.2:g.86575986G>T | GRCh38 |
NC_000008.10:g.87588214G>T , CM000670.1:g.87588214G>T | GRCh37 |
NC_000008.9:g.87657330G>T | NCBI36 |
NG_016980.1:g.172690C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320005.6:c.2248C>A MANE Select | ENSP00000316605.5:p.Pro750Thr | |
ENST00000681546.1:n.2068C>A | ||
ENST00000681746.1:c.*659C>A | ENSP00000505959.1:n.*659C>A | |
ENST00000320005.5:c.2248C>A | ENSP00000316605.5:p.Pro750Thr | |
ENST00000517327.5:c.276+2703C>A | ENSP00000428329.1:n.276+2703C>A | |
NM_019098.4:c.2248C>A | NP_061971.3:p.Pro750Thr | |
XM_011517138.1:c.1834C>A | XP_011515440.1:p.Pro612Thr | |
XM_011517138.2:c.1834C>A | XP_011515440.1:p.Pro612Thr | |
NM_019098.5:c.2248C>A MANE Select | NP_061971.3:p.Pro750Thr |