Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.58496612T>C , CM000670.2:g.58496612T>C | GRCh38 |
| NC_000008.10:g.59409171T>C , CM000670.1:g.59409171T>C | GRCh37 |
| NC_000008.9:g.59571725T>C | NCBI36 |
| NG_007969.1:g.8551A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301645.4:c.900A>G MANE Select | ENSP00000301645.3:p.Gln300= | |
| ENST00000301645.3:c.900A>G | ENSP00000301645.3:p.Gln300= | |
| NM_000780.3:c.900A>G | NP_000771.2:p.Gln300= | |
| XM_011517476.1:c.900A>G | XP_011515778.1:p.Gln300= | |
| NM_000780.4:c.900A>G MANE Select | NP_000771.2:p.Gln300= |