Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.109305458T>C , CM000668.2:g.109305458T>C | GRCh38 |
| NC_000006.11:g.109626661T>C , CM000668.1:g.109626661T>C | GRCh37 |
| NC_000006.10:g.109733354T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429614.6:n.323-501T>C | ||
| ENST00000689724.1:n.55-501T>C | ||
| ENST00000691019.1:n.505-501T>C | ||
| ENST00000691264.1:n.61-501T>C | ||
| ENST00000693346.1:n.55-501T>C | ||
| ENST00000368966.10:n.4200-501T>C | ||
| ENST00000638844.1:n.456-501T>C | ||
| ENST00000368966.8:n.456-501T>C | ||
| ENST00000422819.5:n.462-501T>C | ||
| ENST00000429614.5:n.323-501T>C | ||
| ENST00000615766.4:n.825-501T>C | ||
| NR_028595.1:n.323-501T>C | ||
| NR_152435.1:n.4168-501T>C |