Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173001T>C , CM000678.2:g.173001T>C | GRCh38 |
| NC_000016.9:g.223000T>C , CM000678.1:g.223000T>C | GRCh37 |
| NC_000016.8:g.163000T>C | NCBI36 |
| NG_000006.1:g.33864T>C | |
| NG_059186.1:g.1351T>C | |
| NG_059271.1:g.5155T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.89T>C MANE Select | NP_000508.1:p.Leu30Pro |
| ENST00000251595.11:c.89T>C MANE Select | ENSP00000251595.6:p.Leu30Pro |
| NM_000517.4:c.89T>C | NP_000508.1:p.Leu30Pro |
| ENST00000251595.10:c.89T>C | ENSP00000251595.6:p.Leu30Pro |
| ENST00000397806.1:c.-2+43T>C | ENSP00000380908.1:n.-2+43T>C |
| ENST00000482565.1:n.108T>C | |
| ENST00000484216.1:n.58T>C |