Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157110515A>C , CM000667.2:g.157110515A>C | GRCh38 |
| NC_000005.9:g.156537526A>C , CM000667.1:g.156537526A>C | GRCh37 |
| NC_000005.8:g.156470104A>C | NCBI36 |
| NG_030444.1:g.3723T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524219.2:c.-293-3553T>G | ENSP00000430328.2:n.-293-3553T>G | |
| ENST00000696899.1:c.-264-1268T>G | ENSP00000512960.1:n.-264-1268T>G | |
| ENST00000524219.1:c.-293-3553T>G | ENSP00000430328.1:n.-293-3553T>G |