Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404256G>C , CM000666.2:g.73404256G>C | GRCh38 |
| NC_000004.11:g.74269973G>C , CM000666.1:g.74269973G>C | GRCh37 |
| NC_000004.10:g.74488837G>C | NCBI36 |
| NG_009291.1:g.5002G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.8:c.-72G>C | ENSP00000295897.4:n.-72G>C | |
| ENST00000441319.5:c.48-113G>C | ENSP00000392541.1:n.48-113G>C | |
| ENST00000621628.4:c.-72G>C | ENSP00000480485.1:n.-72G>C | |
| NM_000477.5:c.-72G>C | NP_000468.1:n.-72G>C | |
| NM_000477.6:c.-72G>C | NP_000468.1:n.-72G>C |