Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986046C>G , CM000678.2:g.1986046C>G | GRCh38 |
| NC_000016.9:g.2036047C>G , CM000678.1:g.2036047C>G | GRCh37 |
| NC_000016.8:g.1976048C>G | NCBI36 |
| NG_016288.1:g.6898C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.*18C>G | ENSP00000455885.1:n.*18C>G | |
| ENST00000248114.7:c.*18C>G MANE Select | ENSP00000248114.6:n.*18C>G | |
| ENST00000248114.6:c.*18C>G | ENSP00000248114.6:n.*18C>G | |
| ENST00000565658.1:n.793C>G | ||
| ENST00000567719.1:c.*18C>G | ENSP00000455885.1:n.*18C>G | |
| ENST00000569451.1:c.*109C>G | ENSP00000456432.1:n.*109C>G | |
| NM_005262.2:c.*18C>G | NP_005253.3:n.*18C>G | |
| NM_005262.3:c.*18C>G MANE Select | NP_005253.3:n.*18C>G |