Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88322568A>C , CM000666.2:g.88322568A>C | GRCh38 |
| NC_000004.11:g.89243720A>C , CM000666.1:g.89243720A>C | GRCh37 |
| NC_000004.10:g.89462744A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_244670.3:n.641+3143A>C | ||
| XR_938963.1:n.641+3143A>C | ||
| NR_134236.1:n.425+3143A>C | ||
| NR_134237.1:n.349+3143A>C | ||
| NR_134238.1:n.330+5761A>C |