Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26216765C>T , CM000672.2:g.26216765C>T | GRCh38 |
| NC_000010.10:g.26505694C>T , CM000672.1:g.26505694C>T | GRCh37 |
| NC_000010.9:g.26545700C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000818.2:c.-45C>T | NP_000809.1:n.-45C>T |
| NM_000818.3:c.-45C>T | NP_000809.1:n.-45C>T |
| NM_001134366.1:c.-45C>T | NP_001127838.1:n.-45C>T |
| ENST00000259271.7:c.-45C>T | ENSP00000259271.3:n.-45C>T |
| ENST00000376261.7:c.-45C>T | ENSP00000365437.3:n.-45C>T |
| ENST00000428517.2:c.-45C>T | ENSP00000390434.2:n.-45C>T |