HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190404842C>A , CM000665.2:g.190404842C>A | GRCh38 |
NC_000003.11:g.190122631C>A , CM000665.1:g.190122631C>A | GRCh37 |
NC_000003.10:g.191605325C>A | NCBI36 |
NG_008149.1:g.21791C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.298C>A MANE Select | ENSP00000264734.3:p.Leu100Ile | |
ENST00000456423.2:c.115-5061C>A | ENSP00000414136.2:n.115-5061C>A | |
ENST00000264734.2:c.508C>A | ENSP00000264734.2:p.Leu170Ile | |
ENST00000456423.1:c.325-5061C>A | ENSP00000414136.1:n.325-5061C>A | |
ENST00000468220.1:n.490C>A | ||
NM_006580.3:c.508C>A | NP_006571.1:p.Leu170Ile | |
NM_001378492.1:c.298C>A | NP_001365421.1:p.Leu100Ile | |
NM_001378493.1:c.298C>A | NP_001365422.1:p.Leu100Ile | |
NM_006580.4:c.298C>A MANE Select | NP_006571.2:p.Leu100Ile |