HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571251T>A , CM000663.2:g.154571251T>A | GRCh38 |
NC_000001.10:g.154543727T>A , CM000663.1:g.154543727T>A | GRCh37 |
NC_000001.9:g.152810351T>A | NCBI36 |
NG_008027.1:g.8471T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.428T>A MANE Select | ENSP00000357461.3:p.Ile143Asn | |
ENST00000636034.1:c.428T>A | ENSP00000489703.1:p.Ile143Asn | |
ENST00000637900.1:c.434T>A | ENSP00000490474.1:p.Ile145Asn | |
ENST00000368476.3:c.428T>A | ENSP00000357461.3:p.Ile143Asn | |
NM_000748.2:c.428T>A | NP_000739.1:p.Ile143Asn | |
XM_017000180.2:c.-9-74T>A | XP_016855669.1:n.-9-74T>A | |
XR_001736952.2:n.680T>A | ||
NM_000748.3:c.428T>A MANE Select | NP_000739.1:p.Ile143Asn |