Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388037C>G , CM000665.2:g.190388037C>G | GRCh38 |
| NC_000003.11:g.190105826C>G , CM000665.1:g.190105826C>G | GRCh37 |
| NC_000003.10:g.191588520C>G | NCBI36 |
| NG_008149.1:g.4986C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.2:c.-83C>G | ENSP00000264734.2:n.-83C>G | |
| ENST00000468220.1:n.306+13434C>G | ||
| NM_006580.3:c.-83C>G | NP_006571.1:n.-83C>G | |
| NM_001378492.1:c.-93-200C>G | NP_001365421.1:n.-93-200C>G | |
| NM_001378493.1:c.-93-200C>G | NP_001365422.1:n.-93-200C>G |