Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78780541G>C , CM000667.2:g.78780541G>C | GRCh38 |
| NC_000005.9:g.78076364G>C , CM000667.1:g.78076364G>C | GRCh37 |
| NC_000005.8:g.78112120G>C | NCBI36 |
| NG_007089.1:g.210994C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000046.5:c.1458C>G MANE Select | NP_000037.2:p.Asp486Glu |
| ENST00000264914.10:c.1458C>G MANE Select | ENSP00000264914.4:p.Asp486Glu |
| NM_000046.3:c.1458C>G | NP_000037.2:p.Asp486Glu |
| NM_000046.4:c.1458C>G | NP_000037.2:p.Asp486Glu |
| ENST00000264914.8:c.1458C>G | ENSP00000264914.4:p.Asp486Glu |
| ENST00000521011.1:n.423C>G | |
| XM_011543390.1:c.1458C>G | XP_011541692.1:p.Asp486Glu |