HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190404916A>T , CM000665.2:g.190404916A>T | GRCh38 |
NC_000003.11:g.190122705A>T , CM000665.1:g.190122705A>T | GRCh37 |
NC_000003.10:g.191605399A>T | NCBI36 |
NG_008149.1:g.21865A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.372A>T MANE Select | ENSP00000264734.3:p.Leu124Phe | |
ENST00000456423.2:c.115-4987A>T | ENSP00000414136.2:n.115-4987A>T | |
ENST00000264734.2:c.582A>T | ENSP00000264734.2:p.Leu194Phe | |
ENST00000456423.1:c.325-4987A>T | ENSP00000414136.1:n.325-4987A>T | |
ENST00000468220.1:n.564A>T | ||
NM_006580.3:c.582A>T | NP_006571.1:p.Leu194Phe | |
NM_001378492.1:c.372A>T | NP_001365421.1:p.Leu124Phe | |
NM_001378493.1:c.372A>T | NP_001365422.1:p.Leu124Phe | |
NM_006580.4:c.372A>T MANE Select | NP_006571.2:p.Leu124Phe |