Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.191014717C>G , CM000664.2:g.191014717C>G | GRCh38 |
| NC_000002.11:g.191879443C>G , CM000664.1:g.191879443C>G | GRCh37 |
| NC_000002.10:g.191587688C>G | NCBI36 |
| NG_008294.1:g.4534G>C , LRG_111:g.4534G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432058.1:c.-155-1039G>C | ENSP00000416019.1:n.-155-1039G>C | |
| ENST00000454414.5:c.-1-4713G>C | ENSP00000411398.1:n.-1-4713G>C |