HGVS | Genome Assembly |
---|---|
NC_000014.9:g.20230080T>C , CM000676.2:g.20230080T>C | GRCh38 |
NC_000014.8:g.20698239T>C , CM000676.1:g.20698239T>C | GRCh37 |
NC_000014.7:g.19768079T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553765.2:c.679T>C | ENSP00000451021.2:p.Ter227Gln | |
ENST00000553765.1:c.679T>C | ENSP00000451021.1:p.Ter227Gln | |
NR_145509.1:n.1100T>C |