HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49016133dup , CM000681.2:g.49016133dup | GRCh38 |
NC_000019.9:g.49519390dup , CM000681.1:g.49519390dup | GRCh37 |
NC_000019.8:g.54211202dup | NCBI36 |
NG_011464.1:g.5962dup | |
NG_033041.1:g.27235dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649238.3:c.365dup MANE Select | ENSP00000497294.2:p.Pro123SerfsTer9 | |
ENST00000649284.1:n.456dup | ||
ENST00000221421.6:c.365dup | ENSP00000221421.1:p.Pro123SerfsTer9 | |
ENST00000391869.4:c.359dup | ENSP00000375742.4:p.Pro121SerfsTer9 | |
NM_000894.2:c.365dup | NP_000885.1:p.Pro123SerfsTer9 | |
XM_011526975.1:c.413dup | XP_011525277.1:p.Pro139SerfsTer9 | |
NM_000894.3:c.365dup MANE Select | NP_000885.1:p.Pro123SerfsTer9 |