HGVS | Genome Assembly |
---|---|
NC_000023.11:g.139561911G>C , CM000685.2:g.139561911G>C | GRCh38 |
NC_000023.10:g.138644070G>C , CM000685.1:g.138644070G>C | GRCh37 |
NC_000023.9:g.138471736G>C | NCBI36 |
NG_007994.1:g.36176G>C , LRG_556:g.36176G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218099.7:c.1226G>C MANE Select | ENSP00000218099.2:p.Gly409Ala | |
ENST00000643157.1:n.1723+170G>C | ||
ENST00000218099.6:c.1226G>C | ENSP00000218099.2:p.Gly409Ala | |
ENST00000394090.2:c.1112G>C | ENSP00000377650.2:p.Gly371Ala | |
NM_000133.3:c.1226G>C , LRG_556t1:c.1226G>C | NP_000124.1:p.Gly409Ala | |
NM_001313913.1:c.1112G>C | NP_001300842.1:p.Gly371Ala | |
XM_005262397.3:c.1097G>C | XP_005262454.1:p.Gly366Ala | |
XM_005262397.4:c.1097G>C | XP_005262454.1:p.Gly366Ala | |
NM_000133.4:c.1226G>C MANE Select | NP_000124.1:p.Gly409Ala | |
NM_001313913.2:c.1112G>C | NP_001300842.1:p.Gly371Ala |