Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173212G= , CM000678.2:g.173212G= | GRCh38 |
| NC_000016.9:g.223211G= , CM000678.1:g.223211G= | GRCh37 |
| NC_000016.8:g.163211G= | NCBI36 |
| NG_000006.1:g.34075G= | |
| NG_059186.1:g.1562G= | |
| NG_059271.1:g.5366G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.183G= MANE Select | NP_000508.1:p.Lys61= |
| ENST00000251595.11:c.183G= MANE Select | ENSP00000251595.6:p.Lys61= |
| NM_000517.4:c.183G= | NP_000508.1:p.Lys61= |
| ENST00000251595.10:c.183G= | ENSP00000251595.6:p.Lys61= |
| ENST00000397806.1:c.87G= | ENSP00000380908.1:p.Lys29= |
| ENST00000482565.1:n.319G= | |
| ENST00000484216.1:n.152G= |