HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94079273_94079274dup , CM000663.2:g.94079273_94079274dup | GRCh38 |
NC_000001.10:g.94544829_94544830dup , CM000663.1:g.94544829_94544830dup | GRCh37 |
NC_000001.9:g.94317417_94317418dup | NCBI36 |
NG_009073.1:g.46899_46900dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.1239+71_1239+72dup MANE Select | ENSP00000359245.3:n.1239+71_1239+72dup | |
ENST00000649773.1:c.1239+71_1239+72dup | ENSP00000496882.1:n.1239+71_1239+72dup | |
ENST00000370225.3:c.1239+71_1239+72dup | ENSP00000359245.3:n.1239+71_1239+72dup | |
NM_000350.2:c.1239+71_1239+72dup | NP_000341.2:n.1239+71_1239+72dup | |
NM_000350.3:c.1239+71_1239+72dup MANE Select | NP_000341.2:n.1239+71_1239+72dup |