HGVS | Genome Assembly |
---|---|
NC_000005.10:g.177992807A>T , CM000667.2:g.177992807A>T | GRCh38 |
NC_000005.9:g.177419808A>T , CM000667.1:g.177419808A>T | GRCh37 |
NC_000005.8:g.177352414A>T | NCBI36 |
NG_015889.1:g.8436T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308304.2:c.583T>A MANE Select | ENSP00000311290.2:p.Tyr195Asn | |
NM_006261.4:c.583T>A | NP_006252.3:p.Tyr195Asn | |
NM_006261.5:c.583T>A MANE Select | NP_006252.4:p.Tyr195Asn |