HGVS | Genome Assembly |
---|---|
NC_000007.14:g.99768320C>A , CM000669.2:g.99768320C>A | GRCh38 |
NC_000007.13:g.99365943C>A , CM000669.1:g.99365943C>A | GRCh37 |
NC_000007.12:g.99203879C>A | NCBI36 |
NG_008421.1:g.20866G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000336411.7:c.670+34G>T | ENSP00000337915.3:n.670+34G>T | |
ENST00000651514.1:c.670+34G>T MANE Select | ENSP00000498939.1:n.670+34G>T | |
ENST00000651783.1:c.211+34G>T | ENSP00000498924.1:n.211+34G>T | |
ENST00000652018.1:c.523+34G>T | ENSP00000498733.1:n.523+34G>T | |
ENST00000336411.6:c.670+34G>T | ENSP00000337915.2:n.670+34G>T | |
ENST00000354593.6:c.220+34G>T | ENSP00000346607.2:n.220+34G>T | |
NM_001202855.2:c.670+34G>T | NP_001189784.1:n.670+34G>T | |
NM_017460.5:c.670+34G>T | NP_059488.2:n.670+34G>T | |
XM_011515841.1:c.670+34G>T | XP_011514143.1:n.670+34G>T | |
XM_011515842.1:c.670+34G>T | XP_011514144.1:n.670+34G>T | |
NM_017460.6:c.670+34G>T MANE Select | NP_059488.2:n.670+34G>T | |
NM_001202855.3:c.670+34G>T | NP_001189784.1:n.670+34G>T |