Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173263C>G , CM000678.2:g.173263C>G | GRCh38 |
| NC_000016.9:g.223262C>G , CM000678.1:g.223262C>G | GRCh37 |
| NC_000016.8:g.163262C>G | NCBI36 |
| NG_000006.1:g.34126C>G | |
| NG_059186.1:g.1613C>G | |
| NG_059271.1:g.5417C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.234C>G MANE Select | ENSP00000251595.6:p.Pro78= | |
| ENST00000251595.10:c.234C>G | ENSP00000251595.6:p.Pro78= | |
| ENST00000397806.1:c.138C>G | ENSP00000380908.1:p.Pro46= | |
| ENST00000482565.1:n.370C>G | ||
| ENST00000484216.1:n.203C>G | ||
| NM_000517.4:c.234C>G | NP_000508.1:p.Pro78= | |
| NM_000517.6:c.234C>G MANE Select | NP_000508.1:p.Pro78= |