HGVS | Genome Assembly |
---|---|
NC_000009.12:g.91723810T>C , CM000671.2:g.91723810T>C | GRCh38 |
NC_000009.11:g.94486092T>C , CM000671.1:g.94486092T>C | GRCh37 |
NC_000009.10:g.93525913T>C | NCBI36 |
NG_008089.1:g.231353A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375708.4:c.2684A>G MANE Select | ENSP00000364860.3:p.Asp895Gly | |
ENST00000375708.3:c.2684A>G | ENSP00000364860.3:p.Asp895Gly | |
ENST00000375715.5:c.1920+344A>G | ENSP00000364867.1:n.1920+344A>G | |
ENST00000550066.5:n.3152A>G | ||
NM_004560.3:c.2684A>G | NP_004551.2:p.Asp895Gly | |
XM_005252008.3:c.2264A>G | XP_005252065.1:p.Asp755Gly | |
XM_005252009.3:c.1481A>G | XP_005252066.1:p.Asp494Gly | |
XM_006717121.2:c.2264A>G | XP_006717184.1:p.Asp755Gly | |
XM_011518721.1:c.2264A>G | XP_011517023.1:p.Asp755Gly | |
XM_005252008.4:c.2264A>G | XP_005252065.1:p.Asp755Gly | |
XM_006717121.3:c.2264A>G | XP_006717184.1:p.Asp755Gly | |
XM_017014762.1:c.2675A>G | XP_016870251.1:p.Asp892Gly | |
XM_017014763.1:c.2264A>G | XP_016870252.1:p.Asp755Gly | |
NM_004560.4:c.2684A>G MANE Select | NP_004551.2:p.Asp895Gly |