Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173555G= , CM000678.2:g.173555G= | GRCh38 |
| NC_000016.9:g.223554G= , CM000678.1:g.223554G= | GRCh37 |
| NC_000016.8:g.163554G= | NCBI36 |
| NG_000006.1:g.34418G= | |
| NG_059186.1:g.1905G= | |
| NG_059271.1:g.5709G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.384G= MANE Select | NP_000508.1:p.Lys128= |
| ENST00000251595.11:c.384G= MANE Select | ENSP00000251595.6:p.Lys128= |
| NM_000517.4:c.384G= | NP_000508.1:p.Lys128= |
| ENST00000251595.10:c.384G= | ENSP00000251595.6:p.Lys128= |
| ENST00000397806.1:c.288G= | ENSP00000380908.1:p.Lys96= |
| ENST00000482565.1:n.520G= |