HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153740614T>A , CM000685.2:g.153740614T>A | GRCh38 |
NC_000023.10:g.153006068T>A , CM000685.1:g.153006068T>A | GRCh37 |
NC_000023.9:g.152659262T>A | NCBI36 |
NG_009022.2:g.20747T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218104.6:c.1675T>A MANE Select | ENSP00000218104.3:p.Tyr559Asn | |
ENST00000218104.5:c.1675T>A | ENSP00000218104.3:p.Tyr559Asn | |
NM_000033.3:c.1675T>A | NP_000024.2:p.Tyr559Asn | |
XR_938507.1:n.2147T>A | ||
XR_938507.2:n.2147T>A | ||
NM_000033.4:c.1675T>A MANE Select | NP_000024.2:p.Tyr559Asn |