Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11491387A>T , CM000670.2:g.11491387A>T | GRCh38 |
| NC_000008.10:g.11348896A>T , CM000670.1:g.11348896A>T | GRCh37 |
| NC_000008.9:g.11386305A>T | NCBI36 |
| NG_023543.1:g.2376A>T | |
| NG_023543.2:g.2376A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.274+4220A>T | ||
| ENST00000696154.1:c.-91+4220A>T | ENSP00000512445.1:n.-91+4220A>T | |
| ENST00000645242.1:c.-91+4220A>T | ENSP00000494690.1:n.-91+4220A>T |