Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451596G>C , CM000674.2:g.52451596G>C | GRCh38 |
| NC_000012.11:g.52845380G>C , CM000674.1:g.52845380G>C | GRCh37 |
| NC_000012.10:g.51131647G>C | NCBI36 |
| NG_008299.1:g.5531C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.483C>G MANE Select | ENSP00000252252.3:p.Ala161= | |
| ENST00000252252.3:c.483C>G | ENSP00000252252.3:p.Ala161= | |
| NM_005555.3:c.483C>G | NP_005546.2:p.Ala161= | |
| NM_005555.4:c.483C>G MANE Select | NP_005546.2:p.Ala161= |