HGVS | Genome Assembly |
---|---|
NC_000017.11:g.81629785C>T , CM000679.2:g.81629785C>T | GRCh38 |
NC_000017.10:g.79596811C>T , CM000679.1:g.79596811C>T | GRCh37 |
NC_000017.9:g.77207216C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000705719.1:c.165G>A | ENSP00000516165.1:p.Pro55= | |
ENST00000331134.11:c.36G>A MANE Select | ENSP00000331487.5:p.Pro12= | |
ENST00000331134.10:c.36G>A | ENSP00000331487.5:p.Pro12= | |
ENST00000374747.9:c.36G>A | ENSP00000363879.5:p.Pro12= | |
ENST00000570300.1:n.57G>A | ||
ENST00000574897.5:c.36G>A | ENSP00000461543.1:p.Pro12= | |
ENST00000625705.1:c.33G>A | ENSP00000486640.1:p.Pro11= | |
NM_017921.3:c.36G>A | NP_060391.2:p.Pro12= | |
XM_011524979.1:c.36G>A | XP_011523281.1:p.Pro12= | |
XM_011524980.1:c.36G>A | XP_011523282.1:p.Pro12= | |
XM_011524981.1:c.36G>A | XP_011523283.1:p.Pro12= | |
XM_011524982.1:c.36G>A | XP_011523284.1:p.Pro12= | |
XR_934501.1:n.254G>A | ||
XR_934502.1:n.254G>A | ||
XM_011524982.2:c.36G>A | XP_011523284.1:p.Pro12= | |
XR_001752557.1:n.254G>A | ||
NM_017921.4:c.36G>A MANE Select | NP_060391.2:p.Pro12= | |
NM_001369698.1:c.36G>A | NP_001356627.1:p.Pro12= |