HGVS | Genome Assembly |
---|---|
NC_000001.11:g.15445639dup , CM000663.2:g.15445639dup | GRCh38 |
NC_000001.10:g.15772134dup , CM000663.1:g.15772134dup | GRCh37 |
NC_000001.9:g.15644721dup | NCBI36 |
NG_009253.1:g.12197dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375949.5:c.682dup MANE Select | ENSP00000365116.4:p.Ser228PhefsTer? | |
ENST00000375943.6:c.*136dup | ENSP00000365110.2:n.*136dup | |
ENST00000375949.4:c.682dup | ENSP00000365116.4:p.Ser228PhefsTer? | |
ENST00000483406.1:n.446dup | ||
NM_007272.2:c.682dup | NP_009203.2:p.Ser228PhefsTer? | |
XM_011540550.1:c.536dup | XP_011538852.1:p.Leu180ProfsTer23 | |
NM_007272.3:c.682dup MANE Select | NP_009203.2:p.Ser228PhefsTer? |