HGVS | Genome Assembly |
---|---|
NC_000013.11:g.20188987dup , CM000675.2:g.20188987dup | GRCh38 |
NC_000013.10:g.20763126dup , CM000675.1:g.20763126dup | GRCh37 |
NC_000013.9:g.19661126dup | NCBI36 |
NG_008358.1:g.8989dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382844.2:c.595dup | ENSP00000372295.1:p.Ser199PhefsTer11 | |
ENST00000382848.5:c.595dup MANE Select | ENSP00000372299.4:p.Ser199PhefsTer11 | |
ENST00000382844.1:c.595dup | ENSP00000372295.1:p.Ser199PhefsTer11 | |
ENST00000382848.4:c.595dup | ENSP00000372299.4:p.Ser199PhefsTer11 | |
NM_004004.5:c.595dup | NP_003995.2:p.Ser199PhefsTer11 | |
XM_011535049.1:c.595dup | XP_011533351.1:p.Ser199PhefsTer11 | |
XM_011535049.2:c.595dup | XP_011533351.1:p.Ser199PhefsTer11 | |
NM_004004.6:c.595dup MANE Select | NP_003995.2:p.Ser199PhefsTer11 |