HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29328395A>G , CM000664.2:g.29328395A>G | GRCh38 |
NC_000002.11:g.29551261A>G , CM000664.1:g.29551261A>G | GRCh37 |
NC_000002.10:g.29404765A>G | NCBI36 |
NG_009445.1:g.598172T>C , LRG_488:g.598172T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000389048.8:c.1369T>C MANE Select | ENSP00000373700.3:p.Phe457Leu | |
ENST00000389048.7:c.1369T>C | ENSP00000373700.3:p.Phe457Leu | |
ENST00000618119.4:c.238T>C | ENSP00000482733.1:p.Phe80Leu | |
NM_004304.4:c.1369T>C | NP_004295.2:p.Phe457Leu | |
XR_939920.1:n.703A>G | ||
XR_939921.1:n.680+5867A>G | ||
XR_001738688.2:n.2299T>C | ||
XR_939920.2:n.593A>G | ||
XR_939921.2:n.576+5867A>G | ||
NM_004304.5:c.1369T>C MANE Select | NP_004295.2:p.Phe457Leu |