HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189050660G>A , CM000664.2:g.189050660G>A | GRCh38 |
NC_000002.11:g.189915386G>A , CM000664.1:g.189915386G>A | GRCh37 |
NC_000002.10:g.189623631G>A | NCBI36 |
NG_011799.1:g.134220C>T | |
NG_011799.2:g.134220C>T | |
NG_011799.3:g.179642C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.2948C>T MANE Select | ENSP00000364000.3:p.Pro983Leu | |
ENST00000374866.7:c.2948C>T | ENSP00000364000.3:p.Pro983Leu | |
ENST00000618828.1:c.1787C>T | ENSP00000482184.1:p.Pro596Leu | |
NM_000393.3:c.2948C>T | NP_000384.2:p.Pro983Leu | |
XM_011510573.1:c.2810C>T | XP_011508875.1:p.Pro937Leu | |
NM_000393.4:c.2948C>T | NP_000384.2:p.Pro983Leu | |
XM_011510573.3:c.2810C>T | XP_011508875.1:p.Pro937Leu | |
NM_000393.5:c.2948C>T MANE Select | NP_000384.2:p.Pro983Leu |