HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23433484dup , CM000676.2:g.23433484dup | GRCh38 |
NC_000014.8:g.23902693dup , CM000676.1:g.23902693dup | GRCh37 |
NC_000014.7:g.22972533dup | NCBI36 |
NG_007884.1:g.7178dup , LRG_384:g.7178dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.201+48dup MANE Select | ENSP00000347507.3:n.201+48dup | |
ENST00000355349.3:c.201+48dup | ENSP00000347507.3:n.201+48dup | |
NM_000257.3:c.201+48dup | NP_000248.2:n.201+48dup | |
XR_245686.3:n.307+48dup | ||
XM_017021340.1:c.201+48dup | XP_016876829.1:n.201+48dup | |
NM_000257.4:c.201+48dup MANE Select | NP_000248.2:n.201+48dup |