HGVS | Genome Assembly |
---|---|
NC_000002.12:g.31580634T>G , CM000664.2:g.31580634T>G | GRCh38 |
NC_000002.11:g.31805704T>G , CM000664.1:g.31805704T>G | GRCh37 |
NC_000002.10:g.31659208T>G | NCBI36 |
NG_008365.1:g.5338A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000622030.2:c.267A>C MANE Select | ENSP00000477587.1:p.Leu89= | |
ENST00000622030.1:c.267A>C | ENSP00000477587.1:p.Leu89= | |
NM_000348.3:c.267A>C | NP_000339.2:p.Leu89= | |
XM_011533068.1:c.267A>C | XP_011531370.1:p.Leu89= | |
XM_011533070.1:c.27-46868A>C | XP_011531372.1:n.27-46868A>C | |
XM_011533071.1:c.27-46868A>C | XP_011531373.1:n.27-46868A>C | |
XM_011533072.1:c.27-46868A>C | XP_011531374.1:n.27-46868A>C | |
XM_011533072.2:c.27-46868A>C | XP_011531374.1:n.27-46868A>C | |
NM_000348.4:c.267A>C MANE Select | NP_000339.2:p.Leu89= |