Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29246901A>G , CM000679.2:g.29246901A>G | GRCh38 |
| NC_000017.10:g.27573919A>G , CM000679.1:g.27573919A>G | GRCh37 |
| NC_000017.9:g.24598045A>G | NCBI36 |
| NG_008037.1:g.5045A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005208.5:c.31+7A>G MANE Select | NP_005199.2:n.31+7A>G |
| ENST00000225387.8:c.31+7A>G MANE Select | ENSP00000225387.3:n.31+7A>G |
| NM_005208.4:c.31+7A>G | NP_005199.2:n.31+7A>G |
| ENST00000225387.7:c.31+7A>G | ENSP00000225387.3:n.31+7A>G |
| ENST00000484605.1:c.21+7A>G | |
| XM_017024198.1:c.31+7A>G | XP_016879687.1:n.31+7A>G |