Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.207454276G>C , CM000663.2:g.207454276G>C | GRCh38 |
| NC_000001.10:g.207627621G>C , CM000663.1:g.207627621G>C | GRCh37 |
| NC_000001.9:g.205694244G>C | NCBI36 |
| NG_013006.1:g.4977G>C , LRG_348:g.4977G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699640.1:c.-385+1181G>C | ENSP00000514493.1:n.-385+1181G>C | |
| ENST00000367057.7:c.-143G>C | ENSP00000356024.3:n.-143G>C | |
| ENST00000367058.7:c.-143G>C | ENSP00000356025.3:n.-143G>C | |
| ENST00000367059.3:c.-143G>C | ENSP00000356026.3:n.-143G>C |