Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.155204181C>T , CM000666.2:g.155204181C>T | GRCh38 |
| NC_000004.11:g.156125333C>T , CM000666.1:g.156125333C>T | GRCh37 |
| NC_000004.10:g.156344783C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001375470.1:c.-48-9711C>T | NP_001362399.1:n.-48-9711C>T |
| XM_005263033.3:c.-48-9711C>T | XP_005263090.1:n.-48-9711C>T |
| XM_005263033.4:c.-48-9711C>T | XP_005263090.1:n.-48-9711C>T |