HGVS | Genome Assembly |
---|---|
NC_000002.12:g.176093497del , CM000664.2:g.176093497del | GRCh38 |
NC_000002.11:g.176958225del , CM000664.1:g.176958225del | GRCh37 |
NC_000002.10:g.176666471del | NCBI36 |
NG_008137.1:g.5694del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392539.4:c.607del MANE Select | ENSP00000376322.3:p.Val203CysfsTer? | |
ENST00000392539.3:c.607del | ENSP00000376322.3:p.Val203CysfsTer? | |
NM_000523.3:c.607del | NP_000514.2:p.Val203CysfsTer? | |
XM_011511068.1:c.725-983del | XP_011509370.1:n.725-983del | |
XM_011511068.2:c.725-983del | XP_011509370.1:n.725-983del | |
NM_000523.4:c.607del MANE Select | NP_000514.2:p.Val203CysfsTer? |