HGVS | Genome Assembly |
---|---|
NC_000010.11:g.72007629dup , CM000672.2:g.72007629dup | GRCh38 |
NC_000010.10:g.73767387dup , CM000672.1:g.73767387dup | GRCh37 |
NC_000010.9:g.73437393dup | NCBI36 |
NG_012635.1:g.48268dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373115.5:c.598dup MANE Select | ENSP00000362207.4:p.Leu200ProfsTer? | |
ENST00000373115.4:c.598dup | ENSP00000362207.4:p.Leu200ProfsTer? | |
NM_004273.4:c.598dup | NP_004264.2:p.Leu200ProfsTer? | |
XM_006718075.2:c.598dup | XP_006718138.1:p.Leu200ProfsTer? | |
XM_011540369.1:c.598dup | XP_011538671.1:p.Leu200ProfsTer? | |
XM_006718075.4:c.598dup | XP_006718138.1:p.Leu200ProfsTer? | |
XM_011540369.2:c.598dup | XP_011538671.1:p.Leu200ProfsTer? | |
NM_004273.5:c.598dup MANE Select | NP_004264.2:p.Leu200ProfsTer? |