HGVS | Genome Assembly |
---|---|
NC_000022.11:g.45293279G>T , CM000684.2:g.45293279G>T | GRCh38 |
NC_000022.10:g.45689160G>T , CM000684.1:g.45689160G>T | GRCh37 |
NC_000022.9:g.44067824G>T | NCBI36 |
NG_016203.1:g.13293G>T | |
NG_016203.2:g.13293G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216211.9:c.670G>T MANE Select | ENSP00000216211.4:p.Val224Leu | |
ENST00000216211.8:c.670G>T | ENSP00000216211.4:p.Val224Leu | |
ENST00000396082.2:c.307G>T | ENSP00000379391.2:p.Val103Leu | |
NM_001167574.1:c.307G>T | NP_001161046.1:p.Val103Leu | |
NM_006953.3:c.670G>T | NP_008884.1:p.Val224Leu | |
XM_011530364.1:c.676G>T | XP_011528666.1:p.Val226Leu | |
XM_011530365.1:c.313G>T | XP_011528667.1:p.Val105Leu | |
NM_006953.4:c.670G>T MANE Select | NP_008884.1:p.Val224Leu | |
NM_001167574.2:c.307G>T | NP_001161046.1:p.Val103Leu |