Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11491346G>C , CM000670.2:g.11491346G>C | GRCh38 |
| NC_000008.10:g.11348855G>C , CM000670.1:g.11348855G>C | GRCh37 |
| NC_000008.9:g.11386264G>C | NCBI36 |
| NG_023543.1:g.2335G>C | |
| NG_023543.2:g.2335G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.274+4179G>C | ||
| ENST00000696154.1:c.-91+4179G>C | ENSP00000512445.1:n.-91+4179G>C | |
| ENST00000645242.1:c.-91+4179G>C | ENSP00000494690.1:n.-91+4179G>C |