HGVS | Genome Assembly |
---|---|
NC_000014.9:g.77518099A>T , CM000676.2:g.77518099A>T | GRCh38 |
NC_000014.8:g.77984442A>T , CM000676.1:g.77984442A>T | GRCh37 |
NC_000014.7:g.77054195A>T | NCBI36 |
NG_028282.1:g.103669T>A , LRG_371:g.103669T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000686627.1:n.540T>A | ||
ENST00000687688.1:n.1271T>A | ||
ENST00000692906.1:n.1240T>A | ||
ENST00000216484.7:c.1508T>A MANE Select | ENSP00000216484.2:p.Ile503Asn | |
ENST00000216484.6:c.1508T>A | ENSP00000216484.2:p.Ile503Asn | |
ENST00000556607.1:c.336T>A | ENSP00000451029.1:n.336T>A | |
NM_004863.3:c.1508T>A , LRG_371t1:c.1508T>A | NP_004854.1:p.Ile503Asn | |
NM_004863.4:c.1508T>A MANE Select | NP_004854.1:p.Ile503Asn |