HGVS | Genome Assembly |
---|---|
NC_000007.14:g.100647039A>T , CM000669.2:g.100647039A>T | GRCh38 |
NC_000007.13:g.100244662A>T , CM000669.1:g.100244662A>T | GRCh37 |
NC_000007.12:g.100082598A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000160382.10:c.868T>A MANE Select | ENSP00000160382.5:p.Tyr290Asn | |
ENST00000160382.9:c.868T>A | ENSP00000160382.5:p.Tyr290Asn | |
ENST00000487125.1:n.430T>A | ||
NM_016188.4:c.868T>A | NP_057272.1:p.Tyr290Asn | |
XR_927476.1:n.975T>A | ||
NR_134539.1:n.975T>A | ||
NM_016188.5:c.868T>A MANE Select | NP_057272.1:p.Tyr290Asn | |
NR_134539.2:n.962T>A |