Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173330G>C , CM000678.2:g.173330G>C | GRCh38 |
| NC_000016.9:g.223329G>C , CM000678.1:g.223329G>C | GRCh37 |
| NC_000016.8:g.163329G>C | NCBI36 |
| NG_000006.1:g.34193G>C | |
| NG_059186.1:g.1680G>C | |
| NG_059271.1:g.5484G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.300+1G>C MANE Select | ENSP00000251595.6:n.300+1G>C | |
| ENST00000251595.10:c.300+1G>C | ENSP00000251595.6:n.300+1G>C | |
| ENST00000397806.1:c.204+1G>C | ENSP00000380908.1:n.204+1G>C | |
| ENST00000482565.1:n.436+1G>C | ||
| ENST00000484216.1:n.270G>C | ||
| NM_000517.4:c.300+1G>C | NP_000508.1:n.300+1G>C | |
| NM_000517.6:c.300+1G>C MANE Select | NP_000508.1:n.300+1G>C |