Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19571568A>G , CM000686.2:g.19571568A>G | GRCh38 |
| NC_000024.9:g.21733454A>G , CM000686.1:g.21733454A>G | GRCh37 |
| NC_000024.8:g.20192842A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_045128.1:n.125+4086A>G | |
| NR_045129.1:n.125+4086A>G | |
| ENST00000407724.7:n.170+4086A>G | |
| ENST00000445715.5:n.101+4086A>G | |
| ENST00000445715.6:n.101+4086A>G | |
| ENST00000447202.2:n.123+3617A>G | |
| ENST00000447520.5:n.101+4086A>G | |
| ENST00000459719.6:n.221+3998A>G | |
| ENST00000538014.2:n.240+2109A>G | |
| ENST00000686158.1:n.199+3998A>G | |
| ENST00000686905.1:n.133+4086A>G | |
| ENST00000693214.1:n.221+3998A>G |