Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72376103A>G , CM000677.2:g.72376103A>G | GRCh38 |
| NC_000015.9:g.72668444A>G , CM000677.1:g.72668444A>G | GRCh37 |
| NC_000015.8:g.70455498A>G | NCBI36 |
| NG_009017.1:g.5077T>C | |
| NG_009017.2:g.5077T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268097.9:c.-131T>C | ENSP00000268097.5:n.-131T>C | |
| ENST00000569509.5:n.146+172T>C | ||
| NM_000520.4:c.-131T>C | NP_000511.2:n.-131T>C | |
| NM_000520.5:c.-131T>C | NP_000511.2:n.-131T>C | |
| NM_001318825.1:c.-131T>C | NP_001305754.1:n.-131T>C | |
| NR_134869.1:n.371T>C |