HGVS | Genome Assembly |
---|---|
NC_000013.11:g.33053917C>G , CM000675.2:g.33053917C>G | GRCh38 |
NC_000013.10:g.33628054C>G , CM000675.1:g.33628054C>G | GRCh37 |
NC_000013.9:g.32526054C>G | NCBI36 |
NG_011485.1:g.42484C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380099.4:c.970C>G MANE Select | ENSP00000369442.3:p.Leu324Val | |
ENST00000380099.3:c.970C>G | ENSP00000369442.3:p.Leu324Val | |
ENST00000487852.1:n.978C>G | ||
NM_004795.3:c.970C>G | NP_004786.2:p.Leu324Val | |
XM_006719895.1:c.49C>G | XP_006719958.1:p.Leu17Val | |
XM_006719895.2:c.49C>G | XP_006719958.1:p.Leu17Val | |
NM_004795.4:c.970C>G MANE Select | NP_004786.2:p.Leu324Val |