HGVS | Genome Assembly |
---|---|
NC_000003.12:g.184060116_184060145dup , CM000665.2:g.184060116_184060145dup | GRCh38 |
NC_000003.11:g.183777904_183777933dup , CM000665.1:g.183777904_183777933dup | GRCh37 |
NC_000003.10:g.185260598_185260627dup | NCBI36 |
NG_012749.1:g.12070_12099dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000318351.2:c.1142-34_1142-5dup MANE Select | ENSP00000322617.1:n.1142-34_1142-5dup | |
ENST00000318351.1:c.1142-34_1142-5dup | ENSP00000322617.1:n.1142-34_1142-5dup | |
NM_130770.2:c.1142-34_1142-5dup | NP_570126.2:n.1142-34_1142-5dup | |
NM_130770.3:c.1142-34_1142-5dup MANE Select | NP_570126.2:n.1142-34_1142-5dup |