HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25012983_25012986dup , CM000685.2:g.25012983_25012986dup | GRCh38 |
NC_000023.10:g.25031100_25031103dup , CM000685.1:g.25031100_25031103dup | GRCh37 |
NC_000023.9:g.24941021_24941024dup | NCBI36 |
NG_008281.1:g.7964_7967dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000379044.5:c.1010_1013dup MANE Select | ENSP00000368332.4:p.Tyr338Ter | |
ENST00000379044.4:c.1010_1013dup | ENSP00000368332.4:p.Tyr338Ter | |
NM_139058.2:c.1010_1013dup | NP_620689.1:p.Tyr338Ter | |
NM_139058.3:c.1010_1013dup MANE Select | NP_620689.1:p.Tyr338Ter |