HGVS | Genome Assembly |
---|---|
NC_000006.12:g.34856859A>T , CM000668.2:g.34856859A>T | GRCh38 |
NC_000006.11:g.34824636A>T , CM000668.1:g.34824636A>T | GRCh37 |
NC_000006.10:g.34932614A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000192788.6:c.1361A>T MANE Select | ENSP00000192788.5:p.Gln454Leu | |
ENST00000192788.5:c.1361A>T | ENSP00000192788.5:p.Gln454Leu | |
ENST00000452449.6:c.1361A>T | ENSP00000400628.2:p.Gln454Leu | |
NM_017754.3:c.1361A>T | NP_060224.3:p.Gln454Leu | |
XM_005249199.3:c.203A>T | XP_005249256.1:p.Gln68Leu | |
XM_006715126.2:c.1361A>T | XP_006715189.1:p.Gln454Leu | |
XM_011514714.1:c.1274A>T | XP_011513016.1:p.Gln425Leu | |
XM_011514715.1:c.365A>T | XP_011513017.1:p.Gln122Leu | |
NM_017754.4:c.1361A>T MANE Select | NP_060224.3:p.Gln454Leu |