Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95324583G>T , CM000669.2:g.95324583G>T | GRCh38 |
| NC_000007.13:g.94953895G>T , CM000669.1:g.94953895G>T | GRCh37 |
| NC_000007.12:g.94791831G>T | NCBI36 |
| NG_008779.1:g.4990C>A | |
| NG_008779.2:g.5124C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000446.6:c.-108C>A | NP_000437.3:n.-108C>A |
| ENST00000222381.7:c.-108C>A | ENSP00000222381.3:n.-108C>A |