HGVS | Genome Assembly |
---|---|
NC_000009.12:g.91775761C>T , CM000671.2:g.91775761C>T | GRCh38 |
NC_000009.11:g.94538043C>T , CM000671.1:g.94538043C>T | GRCh37 |
NC_000009.10:g.93577864C>T | NCBI36 |
NG_008089.1:g.179402G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375708.4:c.155G>A MANE Select | ENSP00000364860.3:p.Gly52Asp | |
ENST00000375708.3:c.155G>A | ENSP00000364860.3:p.Gly52Asp | |
ENST00000375715.5:c.-266G>A | ENSP00000364867.1:n.-266G>A | |
ENST00000495386.5:n.418G>A | ||
ENST00000546883.1:n.357G>A | ||
ENST00000548585.2:n.21G>A | ||
ENST00000550066.5:n.623G>A | ||
NM_004560.3:c.155G>A | NP_004551.2:p.Gly52Asp | |
XM_005252008.3:c.-266G>A | XP_005252065.1:n.-266G>A | |
XM_006717121.2:c.-266G>A | XP_006717184.1:n.-266G>A | |
XM_011518721.1:c.-266G>A | XP_011517023.1:n.-266G>A | |
NM_001318204.1:c.155G>A | NP_001305133.1:p.Gly52Asp | |
XM_005252008.4:c.-266G>A | XP_005252065.1:n.-266G>A | |
XM_006717121.3:c.-266G>A | XP_006717184.1:n.-266G>A | |
XM_017014762.1:c.146G>A | XP_016870251.1:p.Gly49Asp | |
XM_017014763.1:c.-266G>A | XP_016870252.1:n.-266G>A | |
XR_001746315.1:n.398G>A | ||
NM_004560.4:c.155G>A MANE Select | NP_004551.2:p.Gly52Asp | |
NM_001318204.2:c.155G>A | NP_001305133.1:p.Gly52Asp |