HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48467970G>T , CM000677.2:g.48467970G>T | GRCh38 |
NC_000015.9:g.48760167G>T , CM000677.1:g.48760167G>T | GRCh37 |
NC_000015.8:g.46547459G>T | NCBI36 |
NG_008805.2:g.182819C>A , LRG_778:g.182819C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4715C>A | ENSP00000453958.2:p.Thr1572Asn | |
ENST00000674301.2:c.4715C>A | ENSP00000501333.2:p.Thr1572Asn | |
ENST00000684448.1:n.3389C>A | ||
ENST00000316623.10:c.4715C>A MANE Select | ENSP00000325527.5:p.Thr1572Asn | |
ENST00000316623.9:c.4715C>A | ENSP00000325527.5:p.Thr1572Asn | |
ENST00000537463.6:c.*478C>A | ENSP00000440294.2:n.*478C>A | |
ENST00000559133.5:c.22C>A | ||
NM_000138.4:c.4715C>A , LRG_778t1:c.4715C>A | NP_000129.3:p.Thr1572Asn | |
NM_000138.5:c.4715C>A MANE Select | NP_000129.3:p.Thr1572Asn |