HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19951840T>A , CM000670.2:g.19951840T>A | GRCh38 |
NC_000008.10:g.19809351T>A , CM000670.1:g.19809351T>A | GRCh37 |
NC_000008.9:g.19853631T>A | NCBI36 |
NG_008855.1:g.17770T>A | |
NG_008855.2:g.55124T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.321T>A MANE Select | ENSP00000497642.1:p.Asn107Lys | |
ENST00000311322.8:c.321T>A | ENSP00000309757.6:p.Asn107Lys | |
ENST00000520959.5:c.93T>A | ENSP00000428496.1:p.Asn31Lys | |
ENST00000524029.5:c.321T>A | ENSP00000428237.1:p.Asn107Lys | |
NM_000237.2:c.321T>A | NP_000228.1:p.Asn107Lys | |
NM_000237.3:c.321T>A MANE Select | NP_000228.1:p.Asn107Lys |