Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868817C>T , CM000664.2:g.240868817C>T | GRCh38 |
| NC_000002.11:g.241808234C>T , CM000664.1:g.241808234C>T | GRCh37 |
| NC_000002.10:g.241456907C>T | NCBI36 |
| NG_008005.1:g.5073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-49C>T | ENSP00000302620.3:n.-49C>T | |
| NM_000030.2:c.-49C>T | NP_000021.1:n.-49C>T | |
| XR_924060.1:n.405+1416G>A |