HGVS | Genome Assembly |
---|---|
NC_000011.10:g.64751632dup , CM000673.2:g.64751632dup | GRCh38 |
NC_000011.9:g.64519104dup , CM000673.1:g.64519104dup | GRCh37 |
NC_000011.8:g.64275680dup | NCBI36 |
NG_013018.1:g.14089dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000164139.4:c.1797dup MANE Select | ENSP00000164139.3:p.Val600CysfsTer? | |
ENST00000164139.3:c.1797dup | ENSP00000164139.3:p.Val600CysfsTer? | |
ENST00000377432.7:c.1533dup | ENSP00000366650.3:p.Val512CysfsTer? | |
ENST00000462303.1:n.121dup | ||
NM_001164716.1:c.1533dup | NP_001158188.1:p.Val512CysfsTer? | |
NM_005609.2:c.1797dup | NP_005600.1:p.Val600CysfsTer? | |
NM_005609.3:c.1797dup | NP_005600.1:p.Val600CysfsTer? | |
NM_005609.4:c.1797dup MANE Select | NP_005600.1:p.Val600CysfsTer? |