HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101424901dup , CM000671.2:g.101424901dup | GRCh38 |
NC_000009.11:g.104187183dup , CM000671.1:g.104187183dup | GRCh37 |
NC_000009.10:g.103227004dup | NCBI36 |
NG_012387.1:g.15883dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.944dup MANE Select | ENSP00000497767.1:p.Gly316TrpfsTer20 | |
ENST00000648064.1:c.944dup | ENSP00000497990.1:p.Gly316TrpfsTer20 | |
ENST00000648758.1:c.944dup | ENSP00000497731.1:p.Gly316TrpfsTer20 | |
ENST00000649902.1:c.944dup | ENSP00000497216.1:p.Gly316TrpfsTer? | |
ENST00000374855.8:c.944dup | ENSP00000363988.4:p.Gly316TrpfsTer20 | |
ENST00000616752.1:c.907dup | ||
NM_000035.3:c.944dup | NP_000026.2:p.Gly316TrpfsTer20 | |
NM_000035.4:c.944dup MANE Select | NP_000026.2:p.Gly316TrpfsTer20 |