Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40096959C>T , CM000679.2:g.40096959C>T | GRCh38 |
| NC_000017.10:g.38253212C>T , CM000679.1:g.38253212C>T | GRCh37 |
| NC_000017.9:g.35506738C>T | NCBI36 |
| NG_033084.1:g.8767G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021724.5:c.370+106G>A MANE Select | NP_068370.1:n.370+106G>A |
| ENST00000246672.4:c.370+106G>A MANE Select | ENSP00000246672.3:n.370+106G>A |
| NM_021724.4:c.370+106G>A | NP_068370.1:n.370+106G>A |
| ENST00000246672.3:c.370+106G>A | ENSP00000246672.3:n.370+106G>A |