Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20230080T= , CM000676.2:g.20230080T= | GRCh38 |
| NC_000014.8:g.20698239T= , CM000676.1:g.20698239T= | GRCh37 |
| NC_000014.7:g.19768079T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_145509.1:n.1100T= | |
| ENST00000553765.1:c.679T= | ENSP00000451021.1:p.Ter227= |
| ENST00000553765.2:c.679T= | ENSP00000451021.2:p.Ter227= |