Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404243A>C , CM000666.2:g.73404243A>C | GRCh38 |
| NC_000004.11:g.74269960A>C , CM000666.1:g.74269960A>C | GRCh37 |
| NC_000004.10:g.74488824A>C | NCBI36 |
| NG_009291.1:g.4989A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000477.6:c.-85A>C | NP_000468.1:n.-85A>C |
| ENST00000295897.8:c.-85A>C | ENSP00000295897.4:n.-85A>C |
| ENST00000441319.5:c.48-126A>C | ENSP00000392541.1:n.48-126A>C |