HGVS | Genome Assembly |
---|---|
NC_000008.11:g.109087570G>T , CM000670.2:g.109087570G>T | GRCh38 |
NC_000008.10:g.110099799G>T , CM000670.1:g.110099799G>T | GRCh37 |
NC_000008.9:g.110168975G>T | NCBI36 |
NG_017161.1:g.5124G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000518632.2:c.58G>T MANE Select | ENSP00000430711.2:p.Val20Leu | |
ENST00000311762.2:c.58G>T | ENSP00000309818.2:p.Val20Leu | |
ENST00000518632.1:c.58G>T | ENSP00000430711.1:p.Val20Leu | |
NM_003301.5:c.58G>T | NP_003292.1:p.Val20Leu | |
XM_011517263.1:c.58G>T | XP_011515565.1:p.Val20Leu | |
XM_011517263.2:c.58G>T | XP_011515565.1:p.Val20Leu | |
NM_003301.7:c.58G>T MANE Select | NP_003292.1:p.Val20Leu |