Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41751113A= , CM000666.2:g.41751113A= | GRCh38 |
| NC_000004.11:g.41753130A= , CM000666.1:g.41753130A= | GRCh37 |
| NC_000004.10:g.41447887A= | NCBI36 |
| NG_008243.1:g.2858T= , LRG_513:g.2858T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001741668.1:n.294+2527A= | |
| XR_001741669.1:n.294+2527A= | |
| XR_001741670.1:n.294+2527A= | |
| XR_001741671.1:n.294+2527A= | |
| XR_925256.2:n.294+2527A= |