HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133352765C>A , CM000671.2:g.133352765C>A | GRCh38 |
NC_000009.10:g.135209441C>A | NCBI36 |
NG_008477.1:g.8742G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371974.8:c.517G>T MANE Select | ENSP00000361042.3:p.Val173Phe | |
ENST00000371974.7:c.517G>T | ENSP00000361042.3:p.Val173Phe | |
ENST00000437995.1:n.462-35G>T | ||
ENST00000495952.5:n.507G>T | ||
ENST00000615505.4:c.190G>T | ENSP00000482067.1:p.Val64Phe | |
NM_001280787.1:c.190G>T | NP_001267716.1:p.Val64Phe | |
NM_003172.3:c.517G>T | NP_003163.1:p.Val173Phe | |
XM_011518942.1:c.190G>T | XP_011517244.1:p.Val64Phe | |
NM_003172.4:c.517G>T MANE Select | NP_003163.1:p.Val173Phe |