HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17346052G>A , CM000663.2:g.17346052G>A | GRCh38 |
NC_000001.10:g.17672547G>A , CM000663.1:g.17672547G>A | GRCh37 |
NC_000001.9:g.17545134G>A | NCBI36 |
NG_023261.2:g.42863G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375448.4:c.960G>A MANE Select | ENSP00000364597.4:p.Leu320= | |
ENST00000468945.1:n.19G>A | ||
NM_012387.2:c.960G>A | NP_036519.2:p.Leu320= | |
XM_011541150.1:c.774G>A | XP_011539452.1:p.Leu258= | |
XM_011541151.1:c.960G>A | XP_011539453.1:p.Leu320= | |
XM_011541152.1:c.423G>A | XP_011539454.1:p.Leu141= | |
XM_011541153.1:c.960G>A | XP_011539455.1:p.Leu320= | |
XM_011541154.1:c.960G>A | XP_011539456.1:p.Leu320= | |
XM_011541155.1:c.960G>A | XP_011539457.1:p.Leu320= | |
XM_011541156.1:c.960G>A | XP_011539458.1:p.Leu320= | |
XM_011541157.1:c.69G>A | XP_011539459.1:p.Leu23= | |
XM_011541154.2:c.960G>A | XP_011539456.1:p.Leu320= | |
NM_012387.3:c.960G>A MANE Select | NP_036519.2:p.Leu320= |