Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.21140491C>T , CM000671.2:g.21140491C>T | GRCh38 |
| NC_000009.11:g.21140490C>T , CM000671.1:g.21140490C>T | GRCh37 |
| NC_000009.10:g.21130490C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380229.3:c.*492G>A | ENSP00000369578.2:n.*492G>A |