HGVS | Genome Assembly |
---|---|
NC_000003.12:g.184060029_184060034dup , CM000665.2:g.184060029_184060034dup | GRCh38 |
NC_000003.11:g.183777817_183777822dup , CM000665.1:g.183777817_183777822dup | GRCh37 |
NC_000003.10:g.185260511_185260516dup | NCBI36 |
NG_012749.1:g.11983_11988dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318351.2:c.1127_1132dup MANE Select | ENSP00000322617.1:p.Thr377_His378insLeuThr | |
ENST00000318351.1:c.1127_1132dup | ENSP00000322617.1:p.Thr377_His378insLeuThr | |
NM_130770.2:c.1127_1132dup | NP_570126.2:p.Thr377_His378insLeuThr | |
NM_130770.3:c.1127_1132dup MANE Select | NP_570126.2:p.Thr377_His378insLeuThr |