HGVS | Genome Assembly |
---|---|
NC_000001.11:g.11965481A>T , CM000663.2:g.11965481A>T | GRCh38 |
NC_000001.10:g.12025538A>T , CM000663.1:g.12025538A>T | GRCh37 |
NC_000001.9:g.11948125A>T | NCBI36 |
NG_008159.1:g.35793A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000196061.5:c.1472A>T MANE Select | ENSP00000196061.4:p.Asp491Val | |
ENST00000196061.4:c.1472A>T | ENSP00000196061.4:p.Asp491Val | |
ENST00000470133.1:n.86A>T | ||
ENST00000491536.5:n.100A>T | ||
NM_000302.3:c.1472A>T | NP_000293.2:p.Asp491Val | |
NM_001316320.1:c.1613A>T | NP_001303249.1:p.Asp538Val | |
XM_011541594.1:c.1553A>T | XP_011539896.1:p.Asp518Val | |
XM_024447707.1:c.806A>T | XP_024303475.1:p.Asp269Val | |
NM_000302.4:c.1472A>T MANE Select | NP_000293.2:p.Asp491Val | |
NM_001316320.2:c.1613A>T | NP_001303249.1:p.Asp538Val |