Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783011T>G , CM000664.2:g.47783011T>G | GRCh38 |
| NC_000002.11:g.48010150T>G , CM000664.1:g.48010150T>G | GRCh37 |
| NC_000002.10:g.47863654T>G | NCBI36 |
| NG_007111.1:g.4865T>G , LRG_219:g.4865T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652107.1:c.-37-7916T>G | ENSP00000498629.1:n.-37-7916T>G | |
| ENST00000606499.1:c.-37-7916T>G | ENSP00000475605.1:n.-37-7916T>G |