Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785820G>C , CM000681.2:g.18785820G>C | GRCh38 |
| NC_000019.9:g.18896630G>C , CM000681.1:g.18896630G>C | GRCh37 |
| NC_000019.8:g.18757630G>C | NCBI36 |
| NG_007070.1:g.10485C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.1521C>G MANE Select | NP_000086.2:p.Asp507Glu |
| ENST00000222271.7:c.1521C>G MANE Select | ENSP00000222271.2:p.Asp507Glu |
| NM_000095.2:c.1521C>G | NP_000086.2:p.Asp507Glu |
| ENST00000222271.6:c.1521C>G | ENSP00000222271.2:p.Asp507Glu |
| ENST00000425807.1:c.1362C>G | ENSP00000403792.1:p.Asp454Glu |
| ENST00000542601.6:c.1422C>G | ENSP00000439156.2:p.Asp474Glu |