Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127418286C>T , CM000664.2:g.127418286C>T | GRCh38 |
| NC_000002.11:g.128175862C>T , CM000664.1:g.128175862C>T | GRCh37 |
| NC_000002.10:g.127892332C>T | NCBI36 |
| NG_016323.1:g.4867C>T , LRG_599:g.4867C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XM_017004505.1:c.51C>T | XP_016859994.1:p.Asp17= |
| XM_024453002.1:c.51C>T | XP_024308770.1:p.Asp17= |