Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.25842723T>C , CM000668.2:g.25842723T>C | GRCh38 |
| NC_000006.11:g.25842951T>C , CM000668.1:g.25842951T>C | GRCh37 |
| NC_000006.10:g.25950930T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000481949.6:c.301+2657A>G | |
| ENST00000505420.5:c.159-916A>G | ENSP00000424027.1:n.159-916A>G |