Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.148697873T>G , CM000665.2:g.148697873T>G | GRCh38 |
| NC_000003.11:g.148415660T>G , CM000665.1:g.148415660T>G | GRCh37 |
| NC_000003.10:g.149898350T>G | NCBI36 |
| NG_008468.1:g.5003T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418473.7:c.-360T>G | ENSP00000398832.4:n.-360T>G | |
| ENST00000349243.7:c.-386T>G | ENSP00000273430.3:n.-386T>G | |
| ENST00000497524.5:c.-302T>G | ENSP00000419422.1:n.-302T>G | |
| NM_000685.4:c.-386T>G | NP_000676.1:n.-386T>G | |
| NM_004835.4:c.-255T>G | NP_004826.5:n.-255T>G | |
| NM_009585.3:c.-302T>G | NP_033611.1:n.-302T>G | |
| NM_031850.3:c.-339T>G | NP_114038.4:n.-339T>G |