Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52678755A>C , CM000674.2:g.52678755A>C | GRCh38 |
| NC_000012.11:g.53072539A>C , CM000674.1:g.53072539A>C | GRCh37 |
| NC_000012.10:g.51358806A>C | NCBI36 |
| NG_008364.1:g.6653T>G | |
| NG_008364.2:g.6653T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.593T>G MANE Select | ENSP00000252244.3:p.Val198Gly | |
| NM_006121.3:c.593T>G | NP_006112.3:p.Val198Gly | |
| NM_006121.4:c.593T>G MANE Select | NP_006112.3:p.Val198Gly |