Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32337049T>C , CM000669.2:g.32337049T>C | GRCh38 |
| NC_000007.13:g.32376661T>C , CM000669.1:g.32376661T>C | GRCh37 |
| NC_000007.12:g.32343186T>C | NCBI36 |
| NG_051183.1:g.96176A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672256.1:c.310+90773A>G | ENSP00000499831.1:n.310+90773A>G | |
| NM_001322059.1:c.310+90773A>G | NP_001308988.1:n.310+90773A>G | |
| NM_001322059.2:c.310+90773A>G | NP_001308988.1:n.310+90773A>G |