HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388183C>T , CM000665.2:g.190388183C>T | GRCh38 |
NC_000003.11:g.190105972C>T , CM000665.1:g.190105972C>T | GRCh37 |
NC_000003.10:g.191588666C>T | NCBI36 |
NG_008149.1:g.5132C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.-147C>T MANE Select | ENSP00000264734.3:n.-147C>T | |
ENST00000456423.2:c.-147C>T | ENSP00000414136.2:n.-147C>T | |
ENST00000264734.2:c.64C>T | ENSP00000264734.2:p.His22Tyr | |
ENST00000456423.1:c.64C>T | ENSP00000414136.1:p.His22Tyr | |
ENST00000468220.1:n.306+13580C>T | ||
NM_006580.3:c.64C>T | NP_006571.1:p.His22Tyr | |
NM_001378492.1:c.-93-54C>T | NP_001365421.1:n.-93-54C>T | |
NM_001378493.1:c.-93-54C>T | NP_001365422.1:n.-93-54C>T | |
NM_006580.4:c.-147C>T MANE Select | NP_006571.2:n.-147C>T |