Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72376014G>A , CM000677.2:g.72376014G>A | GRCh38 |
| NC_000015.9:g.72668355G>A , CM000677.1:g.72668355G>A | GRCh37 |
| NC_000015.8:g.70455409G>A | NCBI36 |
| NG_009017.1:g.5166C>T | |
| NG_009017.2:g.5166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268097.10:c.-42C>T MANE Select | ENSP00000268097.6:n.-42C>T | |
| ENST00000268097.9:c.-42C>T | ENSP00000268097.5:n.-42C>T | |
| ENST00000569509.5:n.147-183C>T | ||
| NM_000520.4:c.-42C>T | NP_000511.2:n.-42C>T | |
| NM_000520.5:c.-42C>T | NP_000511.2:n.-42C>T | |
| NM_001318825.1:c.-42C>T | NP_001305754.1:n.-42C>T | |
| NR_134869.1:n.460C>T | ||
| NM_000520.6:c.-42C>T MANE Select | NP_000511.2:n.-42C>T | |
| NM_001318825.2:c.-42C>T | NP_001305754.1:n.-42C>T | |
| NR_134869.2:n.1C>T | ||
| NR_134869.3:n.1C>T |