HGVS | Genome Assembly |
---|---|
NC_000008.11:g.18400110_18400111dup , CM000670.2:g.18400110_18400111dup | GRCh38 |
NC_000008.10:g.18257620_18257621dup , CM000670.1:g.18257620_18257621dup | GRCh37 |
NC_000008.9:g.18301900_18301901dup | NCBI36 |
NG_012246.1:g.13866_13867dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286479.4:c.107_108dup MANE Select | ENSP00000286479.3:p.Phe37ProfsTer17 | |
ENST00000286479.3:c.107_108dup | ENSP00000286479.3:p.Phe37ProfsTer17 | |
ENST00000520116.1:c.-57-227_-57-226dup | ENSP00000428416.1:n.-57-227_-57-226dup | |
NM_000015.2:c.107_108dup | NP_000006.2:p.Phe37ProfsTer17 | |
XM_011544358.1:c.107_108dup | XP_011542660.1:p.Phe37ProfsTer17 | |
XM_017012938.1:c.107_108dup | XP_016868427.1:p.Phe37ProfsTer17 | |
NM_000015.3:c.107_108dup MANE Select | NP_000006.2:p.Phe37ProfsTer17 |