HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003916_47003917dup , CM000681.2:g.47003916_47003917dup | GRCh38 |
NC_000019.9:g.47507173_47507174dup , CM000681.1:g.47507173_47507174dup | GRCh37 |
NC_000019.8:g.52199013_52199014dup | NCBI36 |
NG_047014.1:g.90350_90351dup | |
NG_047014.2:g.147920_147921dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7728_7729dup | ENSP00000385720.2:n.7728_7729dup | |
ENST00000672722.1:c.*3228_*3229dup MANE Select | ENSP00000500409.1:n.*3228_*3229dup | |
ENST00000404338.7:c.7728_7729dup | ENSP00000385720.2:n.7728_7729dup | |
ENST00000614079.1:c.7305_7306dup | ENSP00000483730.1:n.7305_7306dup | |
NM_004491.4:c.7728_7729dup | NP_004482.4:n.7728_7729dup | |
NM_004491.5:c.*3228_*3229dup MANE Select | NP_004482.4:n.*3228_*3229dup |