HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190404854A>G , CM000665.2:g.190404854A>G | GRCh38 |
NC_000003.11:g.190122643A>G , CM000665.1:g.190122643A>G | GRCh37 |
NC_000003.10:g.191605337A>G | NCBI36 |
NG_008149.1:g.21803A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.310A>G MANE Select | ENSP00000264734.3:p.Lys104Glu | |
ENST00000456423.2:c.115-5049A>G | ENSP00000414136.2:n.115-5049A>G | |
ENST00000264734.2:c.520A>G | ENSP00000264734.2:p.Lys174Glu | |
ENST00000456423.1:c.325-5049A>G | ENSP00000414136.1:n.325-5049A>G | |
ENST00000468220.1:n.502A>G | ||
NM_006580.3:c.520A>G | NP_006571.1:p.Lys174Glu | |
NM_001378492.1:c.310A>G | NP_001365421.1:p.Lys104Glu | |
NM_001378493.1:c.310A>G | NP_001365422.1:p.Lys104Glu | |
NM_006580.4:c.310A>G MANE Select | NP_006571.2:p.Lys104Glu |