HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232543182_232543190dup , CM000664.2:g.232543182_232543190dup | GRCh38 |
NC_000002.11:g.233407892_233407900dup , CM000664.1:g.233407892_233407900dup | GRCh37 |
NC_000002.10:g.233116136_233116144dup | NCBI36 |
NG_012954.1:g.8456_8464dup | |
NG_012954.2:g.8491_8499dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000651502.1:c.806-93_806-85dup MANE Select | ENSP00000498757.1:n.806-93_806-85dup | |
ENST00000389492.3:c.650-93_650-85dup | ENSP00000374143.3:n.650-93_650-85dup | |
ENST00000389494.7:c.806-93_806-85dup | ENSP00000374145.3:n.806-93_806-85dup | |
NM_005199.4:c.806-93_806-85dup | NP_005190.4:n.806-93_806-85dup | |
NM_005199.5:c.806-93_806-85dup MANE Select | NP_005190.4:n.806-93_806-85dup |