Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67606931T>C , CM000673.2:g.67606931T>C | GRCh38 |
| NC_000011.9:g.67374402T>C , CM000673.1:g.67374402T>C | GRCh37 |
| NC_000011.8:g.67130978T>C | NCBI36 |
| NG_013353.1:g.5080T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001166102.1:c.-74T>C | NP_001159574.1:n.-74T>C |
| NM_007103.3:c.-74T>C | NP_009034.2:n.-74T>C |
| ENST00000322776.10:c.-74T>C | ENSP00000322450.6:n.-74T>C |
| ENST00000532244.5:c.-373T>C | ENSP00000435202.1:n.-373T>C |
| ENST00000532303.5:c.-294T>C | ENSP00000432015.1:n.-294T>C |
| ENST00000647561.1:c.-74T>C | ENSP00000497587.1:n.-74T>C |