HGVS | Genome Assembly |
---|---|
NC_000019.10:g.9214590A>T , CM000681.2:g.9214590A>T | GRCh38 |
NC_000019.9:g.9325266A>T , CM000681.1:g.9325266A>T | GRCh37 |
NC_000019.8:g.9186266A>T | NCBI36 |
NG_027953.1:g.5282T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000641244.1:c.248T>A | ENSP00000493404.1:p.Val83Glu | |
ENST00000641669.1:c.248T>A MANE Select | ENSP00000493383.1:p.Val83Glu | |
ENST00000308682.3:c.248T>A | ENSP00000310488.2:p.Val83Glu | |
NM_001005191.2:c.248T>A | NP_001005191.1:p.Val83Glu | |
NM_001005191.3:c.248T>A MANE Select | NP_001005191.1:p.Val83Glu |