Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72376067A>G , CM000677.2:g.72376067A>G | GRCh38 |
| NC_000015.9:g.72668408A>G , CM000677.1:g.72668408A>G | GRCh37 |
| NC_000015.8:g.70455462A>G | NCBI36 |
| NG_009017.1:g.5113T>C | |
| NG_009017.2:g.5113T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268097.9:c.-95T>C | ENSP00000268097.5:n.-95T>C | |
| ENST00000569509.5:n.146+208T>C | ||
| NM_000520.4:c.-95T>C | NP_000511.2:n.-95T>C | |
| NM_000520.5:c.-95T>C | NP_000511.2:n.-95T>C | |
| NM_001318825.1:c.-95T>C | NP_001305754.1:n.-95T>C | |
| NR_134869.1:n.407T>C |