HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47003979_47003980dup , CM000681.2:g.47003979_47003980dup | GRCh38 |
NC_000019.9:g.47507236_47507237dup , CM000681.1:g.47507236_47507237dup | GRCh37 |
NC_000019.8:g.52199076_52199077dup | NCBI36 |
NG_047014.1:g.90413_90414dup | |
NG_047014.2:g.147983_147984dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000404338.8:c.7791_7792dup | ENSP00000385720.2:n.7791_7792dup | |
ENST00000672722.1:c.*3291_*3292dup MANE Select | ENSP00000500409.1:n.*3291_*3292dup | |
ENST00000404338.7:c.7791_7792dup | ENSP00000385720.2:n.7791_7792dup | |
ENST00000614079.1:c.7368_7369dup | ENSP00000483730.1:n.7368_7369dup | |
NM_004491.4:c.7791_7792dup | NP_004482.4:n.7791_7792dup | |
NM_004491.5:c.*3291_*3292dup MANE Select | NP_004482.4:n.*3291_*3292dup |