HGVS | Genome Assembly |
---|---|
NC_000015.10:g.38351268G>A , CM000677.2:g.38351268G>A | GRCh38 |
NC_000015.9:g.38643469G>A , CM000677.1:g.38643469G>A | GRCh37 |
NC_000015.8:g.36430761G>A | NCBI36 |
NG_008980.1:g.103418G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299084.9:c.939G>A MANE Select | ENSP00000299084.4:p.Thr313= | |
ENST00000299084.8:c.939G>A | ENSP00000299084.4:p.Thr313= | |
NM_152594.2:c.939G>A | NP_689807.1:p.Thr313= | |
XM_005254202.2:c.975G>A | XP_005254259.1:p.Thr325= | |
XM_005254203.3:c.717G>A | XP_005254260.1:p.Thr239= | |
XM_011521288.1:c.876G>A | XP_011519590.1:p.Thr292= | |
XM_011521289.1:c.876G>A | XP_011519591.1:p.Thr292= | |
XM_011521290.1:c.876G>A | XP_011519592.1:p.Thr292= | |
XM_005254202.3:c.975G>A | XP_005254259.1:p.Thr325= | |
XM_011521289.3:c.876G>A | XP_011519591.1:p.Thr292= | |
NM_152594.3:c.939G>A MANE Select | NP_689807.1:p.Thr313= |