HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202556411C>G , CM000664.2:g.202556411C>G | GRCh38 |
NC_000002.11:g.203421134C>G , CM000664.1:g.203421134C>G | GRCh37 |
NC_000002.10:g.203129379C>G | NCBI36 |
NG_009363.1:g.185085C>G , LRG_712:g.185085C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.2746C>G MANE Select | ENSP00000363708.4:p.Leu916Val | |
ENST00000638587.1:c.2677C>G | ENSP00000491062.1:n.2677C>G | |
ENST00000374574.2:c.1587-3285C>G | ENSP00000363702.2:n.1587-3285C>G | |
ENST00000374580.8:c.2746C>G | ENSP00000363708.4:p.Leu916Val | |
NM_001204.6:c.2746C>G , LRG_712t1:c.2746C>G | NP_001195.2:p.Leu916Val | |
XM_011511687.1:c.2746C>G | XP_011509989.1:p.Leu916Val | |
XM_011511688.1:c.1587-3285C>G | XP_011509990.1:n.1587-3285C>G | |
NM_001204.7:c.2746C>G MANE Select | NP_001195.2:p.Leu916Val |