Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124911942T>C , CM000674.2:g.124911942T>C | GRCh38 |
| NC_000012.11:g.125396488T>C , CM000674.1:g.125396488T>C | GRCh37 |
| NC_000012.10:g.123962441T>C | NCBI36 |
| NG_027722.2:g.8100A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021009.7:c.1830A>G MANE Select | NP_066289.3:p.Gln610= |
| ENST00000339647.6:c.1830A>G MANE Select | ENSP00000344818.5:p.Gln610= |
| NM_021009.6:c.1830A>G | NP_066289.3:p.Gln610= |
| ENST00000339647.5:c.1830A>G | ENSP00000344818.5:p.Gln610= |
| ENST00000536769.1:c.1830A>G | ENSP00000441543.1:p.Gln610= |
| ENST00000538617.5:c.690A>G | ENSP00000443053.1:p.Gln230= |
| ENST00000546120.2:c.462A>G | ENSP00000438394.2:p.Gln154= |