HGVS | Genome Assembly |
---|---|
NC_000007.14:g.99762206G>T , CM000669.2:g.99762206G>T | GRCh38 |
NC_000007.13:g.99359829G>T , CM000669.1:g.99359829G>T | GRCh37 |
NC_000007.12:g.99197765G>T | NCBI36 |
NG_008421.1:g.26980C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000336411.7:c.1088C>A | ENSP00000337915.3:p.Thr363Lys | |
ENST00000651162.1:n.523C>A | ||
ENST00000651514.1:c.1088C>A MANE Select | ENSP00000498939.1:p.Thr363Lys | |
ENST00000651783.1:c.629C>A | ENSP00000498924.1:p.Thr210Lys | |
ENST00000652018.1:c.941C>A | ENSP00000498733.1:p.Thr314Lys | |
ENST00000336411.6:c.1088C>A | ENSP00000337915.2:p.Thr363Lys | |
ENST00000354593.6:c.638C>A | ENSP00000346607.2:p.Thr213Lys | |
NM_001202855.2:c.1085C>A | NP_001189784.1:p.Thr362Lys | |
NM_017460.5:c.1088C>A | NP_059488.2:p.Thr363Lys | |
XM_011515841.1:c.1088C>A | XP_011514143.1:p.Thr363Lys | |
XM_011515842.1:c.1085C>A | XP_011514144.1:p.Thr362Lys | |
NM_017460.6:c.1088C>A MANE Select | NP_059488.2:p.Thr363Lys | |
NM_001202855.3:c.1085C>A | NP_001189784.1:p.Thr362Lys |