Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868819A>T , CM000664.2:g.240868819A>T | GRCh38 |
| NC_000002.11:g.241808236A>T , CM000664.1:g.241808236A>T | GRCh37 |
| NC_000002.10:g.241456909A>T | NCBI36 |
| NG_008005.1:g.5075A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.3:c.-47A>T | ENSP00000302620.3:n.-47A>T | |
| NM_000030.2:c.-47A>T | NP_000021.1:n.-47A>T | |
| XR_924060.1:n.405+1414T>A |