HGVS | Genome Assembly |
---|---|
NC_000011.10:g.65967703G>C , CM000673.2:g.65967703G>C | GRCh38 |
NC_000011.9:g.65735174G>C , CM000673.1:g.65735174G>C | GRCh37 |
NC_000011.8:g.65491750G>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000312397.10:c.1454G>C MANE Select | ENSP00000310448.5:p.Gly485Ala | |
ENST00000312397.9:c.1454G>C | ENSP00000310448.5:p.Gly485Ala | |
NM_005146.4:c.1454G>C | NP_005137.1:p.Gly485Ala | |
XM_011545344.1:c.1160G>C | XP_011543646.1:p.Gly387Ala | |
XM_011545345.1:c.980G>C | XP_011543647.1:p.Gly327Ala | |
XR_950099.1:n.1518G>C | ||
XM_011545345.2:c.980G>C | XP_011543647.1:p.Gly327Ala | |
XR_950099.3:n.1508G>C | ||
NM_005146.5:c.1454G>C MANE Select | NP_005137.1:p.Gly485Ala |