Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756655C>G , CM000678.2:g.30756655C>G | GRCh38 |
| NC_000016.9:g.30767976C>G , CM000678.1:g.30767976C>G | GRCh37 |
| NC_000016.8:g.30675477C>G | NCBI36 |
| NG_016616.1:g.13357C>G | |
| NG_016616.2:g.13357C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000294.3:c.867C>G MANE Select | NP_000285.1:p.Pro289= |
| ENST00000563588.6:c.867C>G MANE Select | ENSP00000455607.1:p.Pro289= |
| NM_000294.2:c.867C>G | NP_000285.1:p.Pro289= |
| NM_001172432.1:c.867C>G | NP_001165903.1:p.Pro289= |
| NM_001172432.2:c.867C>G | NP_001165903.1:p.Pro289= |
| ENST00000328273.11:c.879C>G | ENSP00000329968.7:p.Pro293= |
| ENST00000424889.7:c.867C>G | ENSP00000388571.3:p.Pro289= |
| ENST00000563588.5:c.867C>G | ENSP00000455607.1:p.Pro289= |
| ENST00000563913.5:n.1200C>G | |
| ENST00000564838.5:n.996C>G |