Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404241T>C , CM000666.2:g.73404241T>C | GRCh38 |
| NC_000004.11:g.74269958T>C , CM000666.1:g.74269958T>C | GRCh37 |
| NC_000004.10:g.74488822T>C | NCBI36 |
| NG_009291.1:g.4987T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000477.6:c.-87T>C | NP_000468.1:n.-87T>C |
| ENST00000295897.8:c.-87T>C | ENSP00000295897.4:n.-87T>C |
| ENST00000441319.5:c.48-128T>C | ENSP00000392541.1:n.48-128T>C |