HGVS | Genome Assembly |
---|---|
NC_000007.14:g.1234081_1234085dup , CM000669.2:g.1234081_1234085dup | GRCh38 |
NC_000007.13:g.1273717_1273721dup , CM000669.1:g.1273717_1273721dup | GRCh37 |
NC_000007.12:g.1240243_1240247dup | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000316333.9:c.450+386_450+390dup MANE Select | ENSP00000314480.8:n.450+386_450+390dup | |
ENST00000316333.8:c.450+386_450+390dup | ENSP00000314480.8:n.450+386_450+390dup | |
NM_001080461.1:c.450+386_450+390dup | NP_001073930.1:n.450+386_450+390dup | |
NM_001080461.2:c.450+386_450+390dup | NP_001073930.1:n.450+386_450+390dup | |
NM_001080461.3:c.450+386_450+390dup MANE Select | NP_001073930.1:n.450+386_450+390dup |