HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19116788_19116795dup , CM000669.2:g.19116788_19116795dup | GRCh38 |
NC_000007.13:g.19156411_19156418dup , CM000669.1:g.19156411_19156418dup | GRCh37 |
NC_000007.12:g.19122936_19122943dup | NCBI36 |
NG_008114.1:g.5881_5888dup | |
NG_008114.2:g.5881_5888dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242261.6:c.530_537dup MANE Select | ENSP00000242261.5:p.His180MetfsTer? | |
ENST00000242261.5:c.530_537dup | ENSP00000242261.5:p.His180MetfsTer? | |
ENST00000354571.5:c.327_334dup | ||
ENST00000443687.5:c.133_140dup | ||
NM_000474.3:c.530_537dup | NP_000465.1:p.His180MetfsTer? | |
XM_011515496.1:c.530_537dup | XP_011513798.1:p.His180MetfsTer? | |
NR_149001.1:n.881_888dup | ||
NM_000474.4:c.530_537dup MANE Select | NP_000465.1:p.His180MetfsTer? | |
NR_149001.2:n.845_852dup |