HGVS | Genome Assembly |
---|---|
NC_000020.11:g.3082990A>T , CM000682.2:g.3082990A>T | GRCh38 |
NC_000020.10:g.3063636A>T , CM000682.1:g.3063636A>T | GRCh37 |
NC_000020.9:g.3011636A>T | NCBI36 |
NG_008663.1:g.6735T>A , LRG_715:g.6735T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380293.3:c.309T>A MANE Select | ENSP00000369647.3:p.Val103= | |
NM_000490.4:c.309T>A , LRG_715t1:c.309T>A | NP_000481.2:p.Val103= | |
XM_011529267.1:c.309T>A | XP_011527569.1:p.Val103= | |
XM_011529267.2:c.309T>A | XP_011527569.1:p.Val103= | |
NM_000490.5:c.309T>A MANE Select | NP_000481.2:p.Val103= |