Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119780660T>G , CM000665.2:g.119780660T>G | GRCh38 |
| NC_000003.11:g.119499507T>G , CM000665.1:g.119499507T>G | GRCh37 |
| NC_000003.10:g.120982197T>G | NCBI36 |
| NG_011856.1:g.5177T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003889.3:c.-1663T>G | NP_003880.3:n.-1663T>G |
| NM_033013.2:c.-1663T>G | NP_148934.1:n.-1663T>G |
| ENST00000393716.6:c.-1663T>G | ENSP00000377319.2:n.-1663T>G |
| ENST00000466380.5:c.-1663T>G | ENSP00000420297.1:n.-1663T>G |
| ENST00000466380.6:c.-1663T>G | ENSP00000420297.2:n.-1663T>G |
| ENST00000648112.1:c.*2-26569T>G | ENSP00000497876.1:n.*2-26569T>G |