HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388167T>C , CM000665.2:g.190388167T>C | GRCh38 |
NC_000003.11:g.190105956T>C , CM000665.1:g.190105956T>C | GRCh37 |
NC_000003.10:g.191588650T>C | NCBI36 |
NG_008149.1:g.5116T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.-163T>C MANE Select | ENSP00000264734.3:n.-163T>C | |
ENST00000456423.2:c.-163T>C | ENSP00000414136.2:n.-163T>C | |
ENST00000264734.2:c.48T>C | ENSP00000264734.2:p.Ser16= | |
ENST00000456423.1:c.48T>C | ENSP00000414136.1:p.Ser16= | |
ENST00000468220.1:n.306+13564T>C | ||
NM_006580.3:c.48T>C | NP_006571.1:p.Ser16= | |
NM_001378492.1:c.-93-70T>C | NP_001365421.1:n.-93-70T>C | |
NM_001378493.1:c.-93-70T>C | NP_001365422.1:n.-93-70T>C | |
NM_006580.4:c.-163T>C MANE Select | NP_006571.2:n.-163T>C |