Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172952G>C , CM000678.2:g.172952G>C | GRCh38 |
| NC_000016.9:g.222951G>C , CM000678.1:g.222951G>C | GRCh37 |
| NC_000016.8:g.162951G>C | NCBI36 |
| NG_000006.1:g.33815G>C | |
| NG_059186.1:g.1302G>C | |
| NG_059271.1:g.5106G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000517.6:c.40G>C MANE Select | NP_000508.1:p.Ala14Pro |
| ENST00000251595.11:c.40G>C MANE Select | ENSP00000251595.6:p.Ala14Pro |
| NM_000517.4:c.40G>C | NP_000508.1:p.Ala14Pro |
| ENST00000251595.10:c.40G>C | ENSP00000251595.6:p.Ala14Pro |
| ENST00000397806.1:c.-8G>C | ENSP00000380908.1:n.-8G>C |
| ENST00000482565.1:n.59G>C | |
| ENST00000484216.1:n.9G>C |