Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102501308G>A , CM000666.2:g.102501308G>A | GRCh38 |
| NC_000004.11:g.103422465G>A , CM000666.1:g.103422465G>A | GRCh37 |
| NC_000004.10:g.103641497G>A | NCBI36 |
| NG_050628.1:g.4980G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011532467.1:c.584C>T | XP_011530769.1:p.Thr195Ile | |
| NR_136202.1:n.48+1131C>T | ||
| XM_024454067.1:c.-534G>A | XP_024309835.1:n.-534G>A | |
| XM_024454069.1:c.-534G>A | XP_024309837.1:n.-534G>A |