HGVS | Genome Assembly |
---|---|
NC_000003.12:g.138945745_138945763dup , CM000665.2:g.138945745_138945763dup | GRCh38 |
NC_000003.11:g.138664587_138664605dup , CM000665.1:g.138664587_138664605dup | GRCh37 |
NC_000003.10:g.140147277_140147295dup | NCBI36 |
NG_012454.1:g.6383_6401dup | |
NG_029796.1:g.3512_3530dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648323.1:c.965_983dup MANE Select | ENSP00000497217.1:p.Thr329GlnfsTer? | |
ENST00000330315.3:c.965_983dup | ENSP00000333188.3:p.Thr329GlnfsTer? | |
NM_023067.3:c.965_983dup | NP_075555.1:p.Thr329GlnfsTer? | |
NM_023067.4:c.965_983dup MANE Select | NP_075555.1:p.Thr329GlnfsTer? |