Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227079A>G , CM000673.2:g.5227079A>G | GRCh38 |
| NC_000011.9:g.5248309A>G , CM000673.1:g.5248309A>G | GRCh37 |
| NC_000011.8:g.5204885A>G | NCBI36 |
| NG_000007.3:g.70537T>C | |
| NG_059281.1:g.4993T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.-58T>C | ENSP00000494175.1:n.-58T>C | |
| ENST00000380315.2:c.-18-40T>C | ENSP00000369671.2:n.-18-40T>C |