Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7581813A= , CM000679.2:g.7581813A= | GRCh38 |
| NC_000017.10:g.7485131A= , CM000679.1:g.7485131A= | GRCh37 |
| NC_000017.9:g.7425855A= | NCBI36 |
| NG_009204.1:g.3167A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001251.3:c.*302A= MANE Select | NP_001242.2:n.*302A= |
| ENST00000250092.11:c.*302A= MANE Select | ENSP00000250092.6:n.*302A= |
| NM_001040059.1:c.*302A= | NP_001035148.1:n.*302A= |
| NM_001040059.2:c.*302A= | NP_001035148.1:n.*302A= |
| NM_001251.2:c.*302A= | NP_001242.2:n.*302A= |
| ENST00000250092.10:c.*302A= | ENSP00000250092.6:n.*302A= |
| ENST00000380498.10:c.*302A= | ENSP00000369867.6:n.*302A= |