Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173348G>C , CM000678.2:g.173348G>C | GRCh38 |
| NC_000016.9:g.223347G>C , CM000678.1:g.223347G>C | GRCh37 |
| NC_000016.8:g.163347G>C | NCBI36 |
| NG_000006.1:g.34211G>C | |
| NG_059186.1:g.1698G>C | |
| NG_059271.1:g.5502G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.300+19G>C MANE Select | ENSP00000251595.6:n.300+19G>C | |
| ENST00000251595.10:c.300+19G>C | ENSP00000251595.6:n.300+19G>C | |
| ENST00000397806.1:c.204+19G>C | ENSP00000380908.1:n.204+19G>C | |
| ENST00000482565.1:n.436+19G>C | ||
| ENST00000484216.1:n.288G>C | ||
| NM_000517.4:c.300+19G>C | NP_000508.1:n.300+19G>C | |
| NM_000517.6:c.300+19G>C MANE Select | NP_000508.1:n.300+19G>C |