Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.32337252T>A , CM000669.2:g.32337252T>A | GRCh38 |
| NC_000007.13:g.32376864T>A , CM000669.1:g.32376864T>A | GRCh37 |
| NC_000007.12:g.32343389T>A | NCBI36 |
| NG_051183.1:g.95973A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000672256.1:c.310+90570A>T | ENSP00000499831.1:n.310+90570A>T | |
| NM_001322059.1:c.310+90570A>T | NP_001308988.1:n.310+90570A>T | |
| NM_001322059.2:c.310+90570A>T | NP_001308988.1:n.310+90570A>T |