Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66002338G>C , CM000673.2:g.66002338G>C | GRCh38 |
| NC_000011.9:g.65769809G>C , CM000673.1:g.65769809G>C | GRCh37 |
| NC_000011.8:g.65526385G>C | NCBI36 |
| NG_031874.1:g.5260G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001143985.1:c.-192G>C | NP_001137457.1:n.-192G>C |
| NM_003860.3:c.-249G>C | NP_003851.1:n.-249G>C |
| ENST00000312175.6:c.-249G>C | ENSP00000310275.2:n.-249G>C |
| ENST00000445560.6:c.-192G>C | ENSP00000416128.2:n.-192G>C |
| ENST00000524663.1:n.23G>C | |
| ENST00000530204.1:c.-419G>C | ENSP00000431785.1:n.-419G>C |