HGVS | Genome Assembly |
---|---|
NC_000014.9:g.72614360A>C , CM000676.2:g.72614360A>C | GRCh38 |
NC_000014.8:g.73081068A>C , CM000676.1:g.73081068A>C | GRCh37 |
NC_000014.7:g.72150821A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000556509.6:c.*4937T>G (DPF3) MANE Select | ENSP00000450518.1:n.*4937T>G | |
XM_011537193.1:c.*3618+1319T>G (DPF3) | XP_011535495.1:n.*3618+1319T>G | |
XM_017021670.2:c.*3618+1319T>G (DPF3) | XP_016877159.1:n.*3618+1319T>G | |
XM_017021825.2:c.1423-15620A>C (RGS6) | XP_016877314.1:n.1423-15620A>C | |
NM_001280542.3:c.*4937T>G (DPF3) MANE Select | NP_001267471.1:n.*4937T>G |