Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40789460C>G , CM000675.2:g.40789460C>G | GRCh38 |
| NC_000013.10:g.41363596C>G , CM000675.1:g.41363596C>G | GRCh37 |
| NC_000013.9:g.40261596C>G | NCBI36 |
| NG_012248.1:g.5050C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014252.3:c.-273C>G | NP_055067.1:n.-273C>G |
| ENST00000478827.1:n.49C>G |