HGVS | Genome Assembly |
---|---|
NC_000019.10:g.12647551C>T , CM000681.2:g.12647551C>T | GRCh38 |
NC_000019.9:g.12758365C>T , CM000681.1:g.12758365C>T | GRCh37 |
NC_000019.8:g.12619365C>T | NCBI36 |
NG_008318.1:g.24227G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000456935.7:c.2712G>A MANE Select | ENSP00000395473.2:p.Thr904= | |
ENST00000221363.8:c.2709G>A | ENSP00000221363.4:p.Thr903= | |
ENST00000456935.6:c.2712G>A | ENSP00000395473.2:p.Thr904= | |
ENST00000466794.5:n.3302G>A | ||
ENST00000469423.1:n.34G>A | ||
ENST00000493218.5:n.123G>A | ||
ENST00000597692.1:c.271G>A | ||
NM_000528.3:c.2712G>A | NP_000519.2:p.Thr904= | |
NM_001173498.1:c.2709G>A | NP_001166969.1:p.Thr903= | |
XM_005259913.1:c.2715G>A | XP_005259970.1:p.Thr905= | |
XM_011528017.1:c.1611G>A | XP_011526319.1:p.Thr537= | |
XM_005259913.2:c.2715G>A | XP_005259970.1:p.Thr905= | |
XM_024451518.1:c.1611G>A | XP_024307286.1:p.Thr537= | |
NM_000528.4:c.2712G>A MANE Select | NP_000519.2:p.Thr904= | |
NM_001173498.2:c.2709G>A | NP_001166969.1:p.Thr903= |