HGVS | Genome Assembly |
---|---|
NC_000014.9:g.77518057G>T , CM000676.2:g.77518057G>T | GRCh38 |
NC_000014.8:g.77984400G>T , CM000676.1:g.77984400G>T | GRCh37 |
NC_000014.7:g.77054153G>T | NCBI36 |
NG_028282.1:g.103711C>A , LRG_371:g.103711C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686627.1:n.582C>A | ||
ENST00000687688.1:n.1313C>A | ||
ENST00000692906.1:n.1282C>A | ||
ENST00000216484.7:c.1550C>A MANE Select | ENSP00000216484.2:p.Thr517Asn | |
ENST00000216484.6:c.1550C>A | ENSP00000216484.2:p.Thr517Asn | |
ENST00000556607.1:c.378C>A | ENSP00000451029.1:n.378C>A | |
NM_004863.3:c.1550C>A , LRG_371t1:c.1550C>A | NP_004854.1:p.Thr517Asn | |
NM_004863.4:c.1550C>A MANE Select | NP_004854.1:p.Thr517Asn |