HGVS | Genome Assembly |
---|---|
NC_000005.10:g.111071489G>T , CM000667.2:g.111071489G>T | GRCh38 |
NC_000005.9:g.110407187G>T , CM000667.1:g.110407187G>T | GRCh37 |
NC_000005.8:g.110435086G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000420978.6:c.6G>T | ENSP00000399099.2:p.Lys2Asn | |
NR_045089.1:n.1410G>T | ||
NR_045089.2:n.1428G>T |