HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388259A>C , CM000665.2:g.190388259A>C | GRCh38 |
NC_000003.11:g.190106048A>C , CM000665.1:g.190106048A>C | GRCh37 |
NC_000003.10:g.191588742A>C | NCBI36 |
NG_008149.1:g.5208A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264734.3:c.-71A>C MANE Select | ENSP00000264734.3:n.-71A>C | |
ENST00000456423.2:c.-71A>C | ENSP00000414136.2:n.-71A>C | |
ENST00000264734.2:c.140A>C | ENSP00000264734.2:p.Asp47Ala | |
ENST00000456423.1:c.140A>C | ENSP00000414136.1:p.Asp47Ala | |
ENST00000468220.1:n.306+13656A>C | ||
NM_006580.3:c.140A>C | NP_006571.1:p.Asp47Ala | |
NM_001378492.1:c.-71A>C | NP_001365421.1:n.-71A>C | |
NM_001378493.1:c.-71A>C | NP_001365422.1:n.-71A>C | |
NM_006580.4:c.-71A>C MANE Select | NP_006571.2:n.-71A>C |