HGVS | Genome Assembly |
---|---|
NC_000013.11:g.27924264T>A , CM000675.2:g.27924264T>A | GRCh38 |
NC_000013.10:g.28498401T>A , CM000675.1:g.28498401T>A | GRCh37 |
NC_000013.9:g.27396401T>A | NCBI36 |
NG_008183.1:g.9234T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000381033.5:c.415T>A MANE Select | ENSP00000370421.4:p.Tyr139Asn | |
ENST00000381033.4:c.415T>A | ENSP00000370421.4:p.Tyr139Asn | |
NM_000209.3:c.415T>A | NP_000200.1:p.Tyr139Asn | |
XR_941578.1:n.3542T>A | ||
XR_941579.1:n.2141T>A | ||
XR_941580.1:n.1057T>A | ||
XR_941578.2:n.3554T>A | ||
XR_941580.2:n.1069T>A | ||
NM_000209.4:c.415T>A MANE Select | NP_000200.1:p.Tyr139Asn |