Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.83878728C= , CM000675.2:g.83878728C= | GRCh38 |
| NC_000013.10:g.84452863C= , CM000675.1:g.84452863C= | GRCh37 |
| NC_000013.9:g.83350864C= | NCBI36 |
| NG_016748.1:g.8666G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001281503.2:c.*689G= MANE Select | NP_001268432.1:n.*689G= |
| ENST00000674365.1:c.*689G= MANE Select | ENSP00000501349.1:n.*689G= |
| NM_001281503.1:c.*689G= | NP_001268432.1:n.*689G= |
| NM_052910.2:c.*689G= | NP_443142.1:n.*689G= |
| ENST00000377084.3:c.*689G= | ENSP00000366288.2:n.*689G= |