Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148826812C>G , CM000667.2:g.148826812C>G | GRCh38 |
| NC_000005.9:g.148206375C>G , CM000667.1:g.148206375C>G | GRCh37 |
| NC_000005.8:g.148186568C>G | NCBI36 |
| NG_016421.1:g.5220C>G | |
| NG_016421.2:g.5220C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.-20C>G MANE Select | ENSP00000305372.4:n.-20C>G | |
| ENST00000305988.5:c.-20C>G | ENSP00000305372.4:n.-20C>G | |
| NM_000024.5:c.-20C>G | NP_000015.1:n.-20C>G | |
| NM_000024.6:c.-20C>G MANE Select | NP_000015.2:n.-20C>G |