HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18786006T>C , CM000681.2:g.18786006T>C | GRCh38 |
NC_000019.9:g.18896816T>C , CM000681.1:g.18896816T>C | GRCh37 |
NC_000019.8:g.18757816T>C | NCBI36 |
NG_007070.1:g.10299A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222271.7:c.1448A>G MANE Select | ENSP00000222271.2:p.Asn483Ser | |
ENST00000222271.6:c.1448A>G | ENSP00000222271.2:p.Asn483Ser | |
ENST00000425807.1:c.1289A>G | ENSP00000403792.1:p.Asn430Ser | |
ENST00000542601.6:c.1349A>G | ENSP00000439156.2:p.Asn450Ser | |
NM_000095.2:c.1448A>G | NP_000086.2:p.Asn483Ser | |
NM_000095.3:c.1448A>G MANE Select | NP_000086.2:p.Asn483Ser |