Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173176G>C , CM000678.2:g.173176G>C | GRCh38 |
| NC_000016.9:g.223175G>C , CM000678.1:g.223175G>C | GRCh37 |
| NC_000016.8:g.163175G>C | NCBI36 |
| NG_000006.1:g.34039G>C | |
| NG_059186.1:g.1526G>C | |
| NG_059271.1:g.5330G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.147G>C MANE Select | ENSP00000251595.6:p.Leu49= | |
| ENST00000251595.10:c.147G>C | ENSP00000251595.6:p.Leu49= | |
| ENST00000397806.1:c.51G>C | ENSP00000380908.1:p.Leu17= | |
| ENST00000482565.1:n.283G>C | ||
| ENST00000484216.1:n.116G>C | ||
| NM_000517.4:c.147G>C | NP_000508.1:p.Leu49= | |
| NM_000517.6:c.147G>C MANE Select | NP_000508.1:p.Leu49= |