Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140114090G>A , CM000667.2:g.140114090G>A | GRCh38 |
| NC_000005.9:g.139493675G>A , CM000667.1:g.139493675G>A | GRCh37 |
| NC_000005.8:g.139473859G>A | NCBI36 |
| NG_041813.1:g.4968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505703.2:c.-92G>A | ENSP00000498560.1:n.-92G>A | |
| ENST00000651386.1:c.-92G>A | ENSP00000499133.1:n.-92G>A | |
| ENST00000502351.1:n.332G>A | ||
| ENST00000505703.1:n.374G>A |