Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42732549G>A , CM000670.2:g.42732549G>A | GRCh38 |
| NC_000008.10:g.42587692G>A , CM000670.1:g.42587692G>A | GRCh37 |
| NC_000008.9:g.42706849G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289957.3:c.1242G>A MANE Select | ENSP00000289957.2:p.Gln414= | |
| ENST00000289957.2:c.1242G>A | ENSP00000289957.2:p.Gln414= | |
| NM_000749.3:c.1242G>A | NP_000740.1:p.Gln414= | |
| XM_011544390.1:c.855G>A | XP_011542692.1:p.Gln285= | |
| NM_000749.4:c.1242G>A | NP_000740.1:p.Gln414= | |
| NM_001347717.1:c.1020G>A | NP_001334646.1:p.Gln340= | |
| XM_011544390.2:c.855G>A | XP_011542692.1:p.Gln285= | |
| NM_000749.5:c.1242G>A MANE Select | NP_000740.1:p.Gln414= | |
| NM_001347717.2:c.1020G>A | NP_001334646.1:p.Gln340= |