HGVS | Genome Assembly |
---|---|
NC_000008.11:g.96145177dup , CM000670.2:g.96145177dup | GRCh38 |
NC_000008.10:g.97157405dup , CM000670.1:g.97157405dup | GRCh37 |
NC_000008.9:g.97226581dup | NCBI36 |
NG_008981.1:g.20619dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287020.7:c.757dup MANE Select | ENSP00000287020.4:p.Gln253ProfsTer? | |
ENST00000287020.6:c.757dup | ENSP00000287020.4:p.Gln253ProfsTer? | |
ENST00000620978.1:c.707-12dup | ENSP00000480170.1:n.707-12dup | |
ENST00000621429.1:c.757dup | ENSP00000483711.1:p.Gln253ProfsTer? | |
NM_001001557.2:c.757dup | NP_001001557.1:p.Gln253ProfsTer? | |
XM_011517030.1:c.358dup | XP_011515332.1:p.Gln120ProfsTer? | |
NM_001001557.3:c.757dup | NP_001001557.1:p.Gln253ProfsTer? | |
NM_001001557.4:c.757dup MANE Select | NP_001001557.1:p.Gln253ProfsTer? |