HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117014dup , CM000669.2:g.19117014dup | GRCh38 |
NC_000007.13:g.19156637dup , CM000669.1:g.19156637dup | GRCh37 |
NC_000007.12:g.19123162dup | NCBI36 |
NG_008114.1:g.5659dup | |
NG_008114.2:g.5659dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000242261.6:c.308dup MANE Select | ENSP00000242261.5:p.Tyr103Ter | |
ENST00000242261.5:c.308dup | ENSP00000242261.5:p.Tyr103Ter | |
ENST00000354571.5:c.105dup | ||
NM_000474.3:c.308dup | NP_000465.1:p.Tyr103Ter | |
XM_011515496.1:c.308dup | XP_011513798.1:p.Tyr103Ter | |
NR_149001.1:n.659dup | ||
NM_000474.4:c.308dup MANE Select | NP_000465.1:p.Tyr103Ter | |
NR_149001.2:n.623dup |