Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.191014708T>A , CM000664.2:g.191014708T>A | GRCh38 |
| NC_000002.11:g.191879434T>A , CM000664.1:g.191879434T>A | GRCh37 |
| NC_000002.10:g.191587679T>A | NCBI36 |
| NG_008294.1:g.4543A>T , LRG_111:g.4543A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432058.1:c.-155-1030A>T | ENSP00000416019.1:n.-155-1030A>T | |
| ENST00000454414.5:c.-1-4704A>T | ENSP00000411398.1:n.-1-4704A>T |