Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89682512T= , CM000677.2:g.89682512T= | GRCh38 |
| NC_000015.9:g.90225743T= , CM000677.1:g.90225743T= | GRCh37 |
| NC_000015.8:g.88026747T= | NCBI36 |
| NG_029172.1:g.1906A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003847.3:c.*865A= MANE Select | NP_003838.1:n.*865A= |
| ENST00000300056.8:c.*865A= MANE Select | ENSP00000300056.3:n.*865A= |
| NM_001271572.1:c.*865A= | NP_001258501.1:n.*865A= |
| NM_001271572.2:c.*865A= | NP_001258501.1:n.*865A= |
| NM_001271573.1:c.*865A= | NP_001258502.1:n.*865A= |
| NM_001271573.2:c.*865A= | NP_001258502.1:n.*865A= |
| NM_003847.2:c.*865A= | NP_003838.1:n.*865A= |
| ENST00000300056.7:c.*865A= | ENSP00000300056.3:n.*865A= |
| ENST00000557982.1:n.207-972A= | |
| ENST00000561224.5:c.173-972A= | ENSP00000453552.1:n.173-972A= |