Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62991271C>T , CM000673.2:g.62991271C>T | GRCh38 |
| NC_000011.9:g.62758743C>T , CM000673.1:g.62758743C>T | GRCh37 |
| NC_000011.8:g.62515319C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539841.1:n.5461G>A |