HGVS | Genome Assembly |
---|---|
NC_000019.10:g.853338G>T , CM000681.2:g.853338G>T | GRCh38 |
NC_000019.9:g.853338G>T , CM000681.1:g.853338G>T | GRCh37 |
NC_000019.8:g.804338G>T | NCBI36 |
NG_009627.1:g.6048G>T , LRG_57:g.6048G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263621.2:c.301G>T MANE Select | ENSP00000263621.1:p.Val101Leu | |
ENST00000263621.1:c.301G>T | ENSP00000263621.1:p.Val101Leu | |
ENST00000590230.5:c.301G>T | ENSP00000466090.1:p.Val101Leu | |
NM_001972.2:c.301G>T , LRG_57t1:c.301G>T | NP_001963.1:p.Val101Leu | |
XM_011527775.1:c.301G>T | XP_011526077.1:p.Val101Leu | |
XM_011527776.1:c.301G>T | XP_011526078.1:p.Val101Leu | |
NM_001972.3:c.301G>T | NP_001963.1:p.Val101Leu | |
NM_001972.4:c.301G>T MANE Select | NP_001963.1:p.Val101Leu |