Genomic Alleles
| 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 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_145509.1:n.1100T>C | |
| ENST00000553765.1:c.679T>C | ENSP00000451021.1:p.Ter227Gln |
| ENST00000553765.2:c.679T>C | ENSP00000451021.2:p.Ter227Gln |