Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173171G>C , CM000678.2:g.173171G>C | GRCh38 |
| NC_000016.9:g.223170G>C , CM000678.1:g.223170G>C | GRCh37 |
| NC_000016.8:g.163170G>C | NCBI36 |
| NG_000006.1:g.34034G>C | |
| NG_059186.1:g.1521G>C | |
| NG_059271.1:g.5325G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.142G>C MANE Select | NP_000508.1:p.Asp48His |
| ENST00000251595.11:c.142G>C MANE Select | ENSP00000251595.6:p.Asp48His |
| NM_000517.4:c.142G>C | NP_000508.1:p.Asp48His |
| ENST00000251595.10:c.142G>C | ENSP00000251595.6:p.Asp48His |
| ENST00000397806.1:c.46G>C | ENSP00000380908.1:p.Asp16His |
| ENST00000482565.1:n.278G>C | |
| ENST00000484216.1:n.111G>C |