Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.131165401C>T , CM000667.2:g.131165401C>T | GRCh38 |
| NC_000005.9:g.130501094C>T , CM000667.1:g.130501094C>T | GRCh37 |
| NC_000005.8:g.130528993C>T | NCBI36 |
| NG_032998.1:g.4948G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000304043.9:c.-196G>A | ENSP00000304229.5:n.-196G>A |
| ENST00000506207.1:n.131-2725G>A | |
| ENST00000506207.2:n.237-2725G>A |