HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49016098dup , CM000681.2:g.49016098dup | GRCh38 |
NC_000019.9:g.49519355dup , CM000681.1:g.49519355dup | GRCh37 |
NC_000019.8:g.54211167dup | NCBI36 |
NG_011464.1:g.5997dup | |
NG_033041.1:g.27200dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649238.3:c.400dup MANE Select | ENSP00000497294.2:p.Gln134ProfsTer? | |
ENST00000649284.1:n.491dup | ||
ENST00000221421.6:c.400dup | ENSP00000221421.1:p.Gln134ProfsTer? | |
ENST00000391869.4:c.394dup | ENSP00000375742.4:p.Gln132ProfsTer8 | |
NM_000894.2:c.400dup | NP_000885.1:p.Gln134ProfsTer? | |
XM_011526975.1:c.448dup | XP_011525277.1:p.Gln150ProfsTer? | |
NM_000894.3:c.400dup MANE Select | NP_000885.1:p.Gln134ProfsTer? |