HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571551T>A , CM000663.2:g.154571551T>A | GRCh38 |
NC_000001.10:g.154544027T>A , CM000663.1:g.154544027T>A | GRCh37 |
NC_000001.9:g.152810651T>A | NCBI36 |
NG_008027.1:g.8771T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.728T>A MANE Select | ENSP00000357461.3:p.Ile243Asn | |
ENST00000636034.1:c.728T>A | ENSP00000489703.1:p.Ile243Asn | |
ENST00000637900.1:c.734T>A | ENSP00000490474.1:p.Ile245Asn | |
ENST00000368476.3:c.728T>A | ENSP00000357461.3:p.Ile243Asn | |
NM_000748.2:c.728T>A | NP_000739.1:p.Ile243Asn | |
XM_017000180.2:c.218T>A | XP_016855669.1:p.Ile73Asn | |
XR_001736952.2:n.980T>A | ||
NM_000748.3:c.728T>A MANE Select | NP_000739.1:p.Ile243Asn |