Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78780490C>T , CM000667.2:g.78780490C>T | GRCh38 |
| NC_000005.9:g.78076313C>T , CM000667.1:g.78076313C>T | GRCh37 |
| NC_000005.8:g.78112069C>T | NCBI36 |
| NG_007089.1:g.211045G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.1509G>A MANE Select | ENSP00000264914.4:p.Gln503= | |
| ENST00000264914.8:c.1509G>A | ENSP00000264914.4:p.Gln503= | |
| ENST00000521011.1:n.474G>A | ||
| NM_000046.3:c.1509G>A | NP_000037.2:p.Gln503= | |
| XM_011543390.1:c.1509G>A | XP_011541692.1:p.Gln503= | |
| NM_000046.4:c.1509G>A | NP_000037.2:p.Gln503= | |
| NM_000046.5:c.1509G>A MANE Select | NP_000037.2:p.Gln503= |