HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190388165T>G , CM000665.2:g.190388165T>G | GRCh38 |
NC_000003.11:g.190105954T>G , CM000665.1:g.190105954T>G | GRCh37 |
NC_000003.10:g.191588648T>G | NCBI36 |
NG_008149.1:g.5114T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.-165T>G MANE Select | ENSP00000264734.3:n.-165T>G | |
ENST00000456423.2:c.-165T>G | ENSP00000414136.2:n.-165T>G | |
ENST00000264734.2:c.46T>G | ENSP00000264734.2:p.Ser16Ala | |
ENST00000456423.1:c.46T>G | ENSP00000414136.1:p.Ser16Ala | |
ENST00000468220.1:n.306+13562T>G | ||
NM_006580.3:c.46T>G | NP_006571.1:p.Ser16Ala | |
NM_001378492.1:c.-93-72T>G | NP_001365421.1:n.-93-72T>G | |
NM_001378493.1:c.-93-72T>G | NP_001365422.1:n.-93-72T>G | |
NM_006580.4:c.-165T>G MANE Select | NP_006571.2:n.-165T>G |