HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48421658A= , CM000677.2:g.48421658A= | GRCh38 |
NC_000015.9:g.48713855A= , CM000677.1:g.48713855A= | GRCh37 |
NC_000015.8:g.46501147A= | NCBI36 |
NG_008805.2:g.229131T= , LRG_778:g.229131T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*407T= | ENSP00000453958.2:n.*407T= | |
ENST00000674301.2:c.*1112T= | ENSP00000501333.2:n.*1112T= | |
ENST00000682170.1:n.1780T= | ||
ENST00000682767.1:n.896T= | ||
ENST00000316623.10:c.7599T= MANE Select | ENSP00000325527.5:p.Asn2533= | |
ENST00000674301.1:c.2765T= | ENSP00000501333.1:n.2765T= | |
ENST00000316623.9:c.7599T= | ENSP00000325527.5:p.Asn2533= | |
ENST00000559133.5:c.2968T= | ||
NM_000138.4:c.7599T= , LRG_778t1:c.7599T= | NP_000129.3:p.Asn2533= | |
NM_000138.5:c.7599T= MANE Select | NP_000129.3:p.Asn2533= |