Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104379424T>A , CM000670.2:g.104379424T>A | GRCh38 |
| NC_000008.10:g.105391652T>A , CM000670.1:g.105391652T>A | GRCh37 |
| NC_000008.9:g.105460828T>A | NCBI36 |
| NG_008840.1:g.92626A>T | |
| NG_008840.2:g.92626A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351513.6:c.*434A>T | ENSP00000276651.2:n.*434A>T | |
| ENST00000521601.1:n.328+1760A>T | ||
| NM_001385.2:c.*434A>T | NP_001376.1:n.*434A>T |