Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173327A= , CM000678.2:g.173327A= | GRCh38 |
| NC_000016.9:g.223326A= , CM000678.1:g.223326A= | GRCh37 |
| NC_000016.8:g.163326A= | NCBI36 |
| NG_000006.1:g.34190A= | |
| NG_059186.1:g.1677A= | |
| NG_059271.1:g.5481A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.298A= MANE Select | ENSP00000251595.6:p.Lys100= | |
| ENST00000251595.10:c.298A= | ENSP00000251595.6:p.Lys100= | |
| ENST00000397806.1:c.202A= | ENSP00000380908.1:p.Lys68= | |
| ENST00000482565.1:n.434A= | ||
| ENST00000484216.1:n.267A= | ||
| NM_000517.4:c.298A= | NP_000508.1:p.Lys100= | |
| NM_000517.6:c.298A= MANE Select | NP_000508.1:p.Lys100= |