Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22581859C>T , CM000676.2:g.22581859C>T | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001344.4:c.212-6626G>A MANE Select | NP_001335.1:n.212-6626G>A |
| ENST00000250498.9:c.212-6626G>A MANE Select | ENSP00000250498.4:n.212-6626G>A |
| NM_001344.3:c.212-6626G>A | NP_001335.1:n.212-6626G>A |
| ENST00000250498.8:c.212-6626G>A | ENSP00000250498.4:n.212-6626G>A |
| ENST00000535847.1:c.123-6626G>A | ENSP00000442074.1:n.123-6626G>A |
| ENST00000538631.1:c.211+7088G>A | ENSP00000440242.1:n.211+7088G>A |
| ENST00000543337.1:c.128-6626G>A | ENSP00000440821.1:n.128-6626G>A |