Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173473T>A , CM000678.2:g.173473T>A | GRCh38 |
| NC_000016.9:g.223472T>A , CM000678.1:g.223472T>A | GRCh37 |
| NC_000016.8:g.163472T>A | NCBI36 |
| NG_000006.1:g.34336T>A | |
| NG_059186.1:g.1823T>A | |
| NG_059271.1:g.5627T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.302T>A MANE Select | ENSP00000251595.6:p.Leu101His | |
| ENST00000251595.10:c.302T>A | ENSP00000251595.6:p.Leu101His | |
| ENST00000397806.1:c.206T>A | ENSP00000380908.1:p.Leu69His | |
| ENST00000482565.1:n.438T>A | ||
| NM_000517.4:c.302T>A | NP_000508.1:p.Leu101His | |
| NM_000517.6:c.302T>A MANE Select | NP_000508.1:p.Leu101His |