HGVS | Genome Assembly |
---|---|
NC_000017.11:g.8077058G>A , CM000679.2:g.8077058G>A | GRCh38 |
NC_000017.10:g.7980376G>A , CM000679.1:g.7980376G>A | GRCh37 |
NC_000017.9:g.7921101G>A | NCBI36 |
NG_007099.1:g.15646C>T | |
NG_007099.2:g.15659C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647874.1:c.1207C>T MANE Select | ENSP00000497784.1:p.His403Tyr | |
ENST00000649809.1:c.271C>T | ENSP00000496845.1:p.His91Tyr | |
ENST00000319144.4:c.1207C>T | ENSP00000315167.4:p.His403Tyr | |
ENST00000577351.5:n.154C>T | ||
ENST00000583276.5:n.591C>T | ||
ENST00000584116.1:n.463C>T | ||
NM_001139.2:c.1207C>T | NP_001130.1:p.His403Tyr | |
NM_001139.3:c.1207C>T MANE Select | NP_001130.1:p.His403Tyr |