HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869105_240869108dup , CM000664.2:g.240869105_240869108dup | GRCh38 |
NC_000002.11:g.241808522_241808525dup , CM000664.1:g.241808522_241808525dup | GRCh37 |
NC_000002.10:g.241457195_241457198dup | NCBI36 |
NG_008005.1:g.5361_5364dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.166-65_166-62dup MANE Select | ENSP00000302620.3:n.166-65_166-62dup | |
ENST00000307503.3:c.166-65_166-62dup | ENSP00000302620.3:n.166-65_166-62dup | |
ENST00000472436.1:n.186-65_186-62dup | ||
NM_000030.2:c.166-65_166-62dup | NP_000021.1:n.166-65_166-62dup | |
XR_924060.1:n.405+1125_405+1128dup | ||
NM_000030.3:c.166-65_166-62dup MANE Select | NP_000021.1:n.166-65_166-62dup |