HGVS | Genome Assembly |
---|---|
NC_000010.11:g.110601742A>T , CM000672.2:g.110601742A>T | GRCh38 |
NC_000010.10:g.112361500A>T , CM000672.1:g.112361500A>T | GRCh37 |
NC_000010.9:g.112351490A>T | NCBI36 |
NG_012217.1:g.39052A>T , LRG_774:g.39052A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000684988.1:n.4983A>T | ||
ENST00000685743.1:n.2458A>T | ||
ENST00000686057.1:n.1101A>T | ||
ENST00000689321.1:n.1713A>T | ||
ENST00000689986.1:n.539A>T | ||
ENST00000361804.5:c.2750A>T MANE Select | ENSP00000354720.5:p.His917Leu | |
ENST00000361804.4:c.2750A>T | ENSP00000354720.4:p.His917Leu | |
NM_005445.3:c.2750A>T , LRG_774t1:c.2750A>T | NP_005436.1:p.His917Leu | |
NM_005445.4:c.2750A>T MANE Select | NP_005436.1:p.His917Leu |