HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111071502A>T , CM000667.2:g.111071502A>T | GRCh38 |
NC_000005.9:g.110407200A>T , CM000667.1:g.110407200A>T | GRCh37 |
NC_000005.8:g.110435099A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000420978.6:c.19A>T | ENSP00000399099.2:p.Ser7Cys | |
NR_045089.1:n.1423A>T | ||
NR_045089.2:n.1441A>T |