HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81535258A>T , CM000665.2:g.81535258A>T | GRCh38 |
NC_000003.11:g.81584409A>T , CM000665.1:g.81584409A>T | GRCh37 |
NC_000003.10:g.81667099A>T | NCBI36 |
NG_011810.1:g.231543T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.1871T>A MANE Select | ENSP00000410833.2:p.Ile624Asn | |
ENST00000429644.6:c.1871T>A | ENSP00000410833.2:p.Ile624Asn | |
ENST00000484687.1:n.272T>A | ||
ENST00000489715.1:c.1748T>A | ENSP00000419638.1:p.Ile583Asn | |
NM_000158.3:c.1871T>A | NP_000149.3:p.Ile624Asn | |
NM_000158.4:c.1871T>A MANE Select | NP_000149.4:p.Ile624Asn |