Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15174922C>T , CM000665.2:g.15174922C>T | GRCh38 |
| NC_000003.11:g.15216429C>T , CM000665.1:g.15216429C>T | GRCh37 |
| NC_000003.10:g.15191433C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_027927.1:n.1282G>A | |
| ENST00000446690.2:n.1282G>A | |
| ENST00000487147.5:n.1106G>A | |
| ENST00000491915.1:n.182G>A |