Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25168420C>T , CM000666.2:g.25168420C>T | GRCh38 |
| NC_000004.11:g.25170042C>T , CM000666.1:g.25170042C>T | GRCh37 |
| NC_000004.10:g.24779140C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_037934.1:n.82+7667C>T | |
| ENST00000512921.4:c.-21+7667C>T | ENSP00000423373.1:n.-21+7667C>T |