Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80152793T>C , CM000677.2:g.80152793T>C | GRCh38 |
| NC_000015.9:g.80445135T>C , CM000677.1:g.80445135T>C | GRCh37 |
| NC_000015.8:g.78232190T>C | NCBI36 |
| NG_012833.1:g.4795T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407106.5:c.-142T>C | ENSP00000385080.1:n.-142T>C | |
| ENST00000537726.5:n.5T>C | ||
| ENST00000558022.5:c.-29-233T>C | ENSP00000453152.1:n.-29-233T>C | |
| NM_001374377.1:c.-142T>C | NP_001361306.1:n.-142T>C | |
| NM_001374380.1:c.-78T>C | NP_001361309.1:n.-78T>C |