HGVS | Genome Assembly |
---|---|
NC_000018.10:g.60371530T>A , CM000680.2:g.60371530T>A | GRCh38 |
NC_000018.9:g.58038763T>A , CM000680.1:g.58038763T>A | GRCh37 |
NC_000018.8:g.56189743T>A | NCBI36 |
NG_016441.1:g.6239A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299766.5:c.820A>T MANE Select | ENSP00000299766.3:p.Asn274Tyr | |
ENST00000299766.4:c.820A>T | ENSP00000299766.3:p.Asn274Tyr | |
NM_005912.2:c.820A>T | NP_005903.2:p.Asn274Tyr | |
NM_005912.3:c.820A>T MANE Select | NP_005903.2:p.Asn274Tyr |