Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404253G>T , CM000666.2:g.73404253G>T | GRCh38 |
| NC_000004.11:g.74269970G>T , CM000666.1:g.74269970G>T | GRCh37 |
| NC_000004.10:g.74488834G>T | NCBI36 |
| NG_009291.1:g.4999G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000477.6:c.-75G>T | NP_000468.1:n.-75G>T |
| ENST00000295897.8:c.-75G>T | ENSP00000295897.4:n.-75G>T |
| ENST00000441319.5:c.48-116G>T | ENSP00000392541.1:n.48-116G>T |