Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31202751A>G , CM000668.2:g.31202751A>G | GRCh38 |
| NC_000006.11:g.31170528A>G , CM000668.1:g.31170528A>G | GRCh37 |
| NC_000006.10:g.31278507A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_026791.1:n.503A>G | |
| ENST00000383331.4:c.503A>G | |
| ENST00000415276.1:n.421A>G | |
| ENST00000424675.1:c.424A>G |