Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8048038G>C , CM000672.2:g.8048038G>C | GRCh38 |
| NC_000010.10:g.8090001G>C , CM000672.1:g.8090001G>C | GRCh37 |
| NC_000010.9:g.8130007G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000643001.1:c.-370+2523G>C | ENSP00000494284.1:n.-370+2523G>C |
| XM_005252443.3:c.-370+2523G>C | XP_005252500.1:n.-370+2523G>C |
| XM_005252443.5:c.-370+2523G>C | XP_005252500.1:n.-370+2523G>C |
| XM_011519800.1:c.214-121G>C | XP_011518102.1:n.214-121G>C |