Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.624523C>T , CM000685.2:g.624523C>T | GRCh38 |
| NC_000023.10:g.585258C>T , CM000685.1:g.585258C>T | GRCh37 |
| NC_000023.9:g.505258C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000334060.8:c.-512C>T | ENSP00000335505.3:n.-512C>T |
| ENST00000381578.6:c.-512C>T | ENSP00000370990.1:n.-512C>T |