HGVS | Genome Assembly |
---|---|
NC_000011.10:g.46729509G>A , CM000673.2:g.46729509G>A | GRCh38 |
NC_000011.9:g.46751059G>A , CM000673.1:g.46751059G>A | GRCh37 |
NC_000011.8:g.46707635G>A | NCBI36 |
NG_008953.1:g.15317G>A , LRG_551:g.15317G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000311907.10:c.1602G>A MANE Select | ENSP00000308541.5:p.Pro534= | |
ENST00000311907.9:c.1602G>A | ENSP00000308541.5:p.Pro534= | |
ENST00000530231.5:c.1485G>A | ENSP00000433907.1:p.Pro495= | |
NM_000506.3:c.1602G>A | NP_000497.1:p.Pro534= | |
NM_000506.4:c.1602G>A , LRG_551t1:c.1602G>A | NP_000497.1:p.Pro534= | |
NM_001311257.1:c.1554G>A | NP_001298186.1:p.Pro518= | |
XR_428840.2:n.1516+672G>A | ||
XR_428840.4:n.1507+672G>A | ||
NM_000506.5:c.1602G>A MANE Select | NP_000497.1:p.Pro534= | |
NM_001311257.2:c.1554G>A | NP_001298186.1:p.Pro518= |