HGVS | Genome Assembly |
---|---|
NC_000016.10:g.173139T>A , CM000678.2:g.173139T>A | GRCh38 |
NC_000016.9:g.223138T>A , CM000678.1:g.223138T>A | GRCh37 |
NC_000016.8:g.163138T>A | NCBI36 |
NG_000006.1:g.34002T>A | |
NG_059186.1:g.1489T>A | |
NG_059271.1:g.5293T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000251595.11:c.110T>A MANE Select | ENSP00000251595.6:p.Phe37Tyr | |
ENST00000251595.10:c.110T>A | ENSP00000251595.6:p.Phe37Tyr | |
ENST00000397806.1:c.14T>A | ENSP00000380908.1:p.Phe5Tyr | |
ENST00000482565.1:n.246T>A | ||
ENST00000484216.1:n.79T>A | ||
NM_000517.4:c.110T>A | NP_000508.1:p.Phe37Tyr | |
NM_000517.6:c.110T>A MANE Select | NP_000508.1:p.Phe37Tyr |