Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.130592870T= , CM000664.2:g.130592870T= | GRCh38 |
| NC_000002.11:g.131350443T= , CM000664.1:g.131350443T= | GRCh37 |
| NC_000002.10:g.131066913T= | NCBI36 |
| NG_008148.1:g.11640A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259216.6:c.*7A= MANE Select | ENSP00000259216.5:n.*7A= | |
| ENST00000259216.4:c.*7A= | ENSP00000259216.4:n.*7A= | |
| ENST00000615342.4:c.564A= | ENSP00000480526.1:p.Leu188= | |
| ENST00000621673.4:c.*7A= | ENSP00000480843.1:n.*7A= | |
| NM_001270420.1:c.564A= | NP_001257349.1:p.Leu188= | |
| NM_001270421.1:c.*7A= | NP_001257350.1:n.*7A= | |
| NM_032545.3:c.*7A= | NP_115934.1:n.*7A= | |
| NM_032545.4:c.*7A= MANE Select | NP_115934.1:n.*7A= | |
| NM_001270420.2:c.564A= | NP_001257349.1:p.Leu188= | |
| NM_001270421.2:c.*7A= | NP_001257350.1:n.*7A= |