HGVS | Genome Assembly |
---|---|
NC_000009.12:g.137199454dup , CM000671.2:g.137199454dup | GRCh38 |
NC_000009.11:g.140093906dup , CM000671.1:g.140093906dup | GRCh37 |
NC_000009.10:g.139213727dup | NCBI36 |
NG_027801.1:g.6263dup | |
NG_027801.2:g.9745dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409012.6:c.1263dup MANE Select | ENSP00000387100.4:p.Phe422LeufsTer10 | |
ENST00000333046.8:c.657dup | ENSP00000327617.4:p.Phe220LeufsTer10 | |
ENST00000409012.4:c.1263dup | ENSP00000387100.4:p.Phe422LeufsTer10 | |
ENST00000541945.1:n.90+4655dup | ||
NM_001128228.2:c.1263dup | NP_001121700.2:p.Phe422LeufsTer10 | |
NM_001128228.3:c.1263dup MANE Select | NP_001121700.2:p.Phe422LeufsTer10 |