Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404250A>G , CM000666.2:g.73404250A>G | GRCh38 |
| NC_000004.11:g.74269967A>G , CM000666.1:g.74269967A>G | GRCh37 |
| NC_000004.10:g.74488831A>G | NCBI36 |
| NG_009291.1:g.4996A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000477.6:c.-78A>G | NP_000468.1:n.-78A>G |
| ENST00000295897.8:c.-78A>G | ENSP00000295897.4:n.-78A>G |
| ENST00000441319.5:c.48-119A>G | ENSP00000392541.1:n.48-119A>G |