Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.54606509G>T , CM000667.2:g.54606509G>T | GRCh38 |
| NC_000005.9:g.53902339G>T , CM000667.1:g.53902339G>T | GRCh37 |
| NC_000005.8:g.53938096G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_017008997.1:c.*102G>T | XP_016864486.1:n.*102G>T |
| XR_001741987.1:n.1919+3G>T |