Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.95246826C>A , CM000670.2:g.95246826C>A | GRCh38 |
| NC_000008.10:g.96259054C>A , CM000670.1:g.96259054C>A | GRCh37 |
| NC_000008.9:g.96328230C>A | NCBI36 |
| NG_032804.1:g.27409G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_177965.4:c.*791G>T MANE Select | NP_808880.1:n.*791G>T |
| ENST00000286688.6:c.*791G>T MANE Select | ENSP00000286688.5:n.*791G>T |
| NM_001363260.1:c.*791G>T | NP_001350189.1:n.*791G>T |
| NM_177965.3:c.*791G>T | NP_808880.1:n.*791G>T |
| ENST00000286688.5:c.*791G>T | ENSP00000286688.5:n.*791G>T |
| XM_005250799.2:c.*791G>T | XP_005250856.2:n.*791G>T |