HGVS | Genome Assembly |
---|---|
NC_000006.12:g.131851481_131851486dup , CM000668.2:g.131851481_131851486dup | GRCh38 |
NC_000006.11:g.132172621_132172626dup , CM000668.1:g.132172621_132172626dup | GRCh37 |
NC_000006.10:g.132214314_132214319dup | NCBI36 |
NG_008206.1:g.48466_48471dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647893.1:c.556+214_556+219dup MANE Select | ENSP00000498074.1:n.556+214_556+219dup | |
ENST00000650147.1:c.234+214_234+219dup | ||
ENST00000650437.1:c.108+1375_108+1380dup | ||
ENST00000360971.6:c.556+214_556+219dup | ENSP00000354238.2:n.556+214_556+219dup | |
ENST00000513998.5:c.556+214_556+219dup | ENSP00000422424.1:n.556+214_556+219dup | |
NM_006208.2:c.556+214_556+219dup | NP_006199.2:n.556+214_556+219dup | |
NM_006208.3:c.556+214_556+219dup MANE Select | NP_006199.2:n.556+214_556+219dup |