Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78925357G= , CM000679.2:g.78925357G= | GRCh38 |
| NC_000017.10:g.76921439G= , CM000679.1:g.76921439G= | GRCh37 |
| NC_000017.9:g.74433034G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003255.5:c.-269C= MANE Select | NP_003246.1:n.-269C= |
| ENST00000262768.11:c.-269C= MANE Select | ENSP00000262768.6:n.-269C= |
| NM_003255.4:c.-269C= | NP_003246.1:n.-269C= |