Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18788520G>C , CM000681.2:g.18788520G>C | GRCh38 |
| NC_000019.9:g.18899329G>C , CM000681.1:g.18899329G>C | GRCh37 |
| NC_000019.8:g.18760329G>C | NCBI36 |
| NG_007070.1:g.7786C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.763-6C>G MANE Select | NP_000086.2:n.763-6C>G |
| ENST00000222271.7:c.763-6C>G MANE Select | ENSP00000222271.2:n.763-6C>G |
| NM_000095.2:c.763-6C>G | NP_000086.2:n.763-6C>G |
| ENST00000222271.6:c.763-6C>G | ENSP00000222271.2:n.763-6C>G |
| ENST00000425807.1:c.604-6C>G | ENSP00000403792.1:n.604-6C>G |
| ENST00000542601.6:c.664-6C>G | ENSP00000439156.2:n.664-6C>G |