Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94046860G= , CM000663.2:g.94046860G= | GRCh38 |
| NC_000001.10:g.94512416G= , CM000663.1:g.94512416G= | GRCh37 |
| NC_000001.9:g.94285004G= | NCBI36 |
| NG_009073.1:g.79290C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370225.4:c.2918+59C= MANE Select | ENSP00000359245.3:n.2918+59C= | |
| ENST00000649773.1:c.2696+59C= | ENSP00000496882.1:n.2696+59C= | |
| ENST00000370225.3:c.2918+59C= | ENSP00000359245.3:n.2918+59C= | |
| ENST00000536513.5:c.-64-6771C= | ENSP00000439707.2:n.-64-6771C= | |
| NM_000350.2:c.2918+59C= | NP_000341.2:n.2918+59C= | |
| NM_000350.3:c.2918+59C= MANE Select | NP_000341.2:n.2918+59C= |