HGVS | Genome Assembly |
---|---|
NC_000013.11:g.33053913T>G , CM000675.2:g.33053913T>G | GRCh38 |
NC_000013.10:g.33628050T>G , CM000675.1:g.33628050T>G | GRCh37 |
NC_000013.9:g.32526050T>G | NCBI36 |
NG_011485.1:g.42480T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380099.4:c.966T>G MANE Select | ENSP00000369442.3:p.Phe322Leu | |
ENST00000380099.3:c.966T>G | ENSP00000369442.3:p.Phe322Leu | |
ENST00000487852.1:n.974T>G | ||
NM_004795.3:c.966T>G | NP_004786.2:p.Phe322Leu | |
XM_006719895.1:c.45T>G | XP_006719958.1:p.Phe15Leu | |
XM_006719895.2:c.45T>G | XP_006719958.1:p.Phe15Leu | |
NM_004795.4:c.966T>G MANE Select | NP_004786.2:p.Phe322Leu |