HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31861412dup , CM000668.2:g.31861412dup | GRCh38 |
NC_000006.11:g.31829189dup , CM000668.1:g.31829189dup | GRCh37 |
NC_000006.10:g.31937168dup | NCBI36 |
NG_008201.1:g.6524dup | |
NG_023058.1:g.22638dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.394dup MANE Select | ENSP00000364782.4:p.Asp132GlyfsTer16 | |
ENST00000677054.1:n.1071dup | ||
ENST00000677512.1:n.502dup | ||
ENST00000678869.1:n.502dup | ||
ENST00000375631.4:c.394dup | ENSP00000364782.4:p.Asp132GlyfsTer16 | |
ENST00000480384.1:n.423dup | ||
ENST00000491768.5:c.394dup | ENSP00000433127.1:p.Asp132GlyfsTer16 | |
ENST00000495807.1:n.962dup | ||
NM_000434.3:c.394dup | NP_000425.1:p.Asp132GlyfsTer16 | |
NM_000434.4:c.394dup MANE Select | NP_000425.1:p.Asp132GlyfsTer16 |