Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15848363G>T , CM000666.2:g.15848363G>T | GRCh38 |
| NC_000004.11:g.15849986G>T , CM000666.1:g.15849986G>T | GRCh37 |
| NC_000004.10:g.15459084G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001775.4:c.840-176G>T MANE Select | NP_001766.2:n.840-176G>T |
| ENST00000226279.8:c.840-176G>T MANE Select | ENSP00000226279.2:n.840-176G>T |
| NM_001775.2:c.840-176G>T | NP_001766.2:n.840-176G>T |
| NM_001775.3:c.840-176G>T | NP_001766.2:n.840-176G>T |
| NR_132660.1:n.854-176G>T | |
| NR_132660.2:n.791-176G>T | |
| ENST00000226279.7:c.840-176G>T | ENSP00000226279.2:n.840-176G>T |
| ENST00000502843.5:c.*335-176G>T | ENSP00000427277.1:n.*335-176G>T |