Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48961892T>C , CM000679.2:g.48961892T>C | GRCh38 |
| NC_000017.10:g.47039254T>C , CM000679.1:g.47039254T>C | GRCh37 |
| NC_000017.9:g.44394253T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357424.2:c.258-73A>G MANE Select | ENSP00000350005.2:n.258-73A>G | |
| NM_004123.2:c.258-73A>G | NP_004114.1:n.258-73A>G | |
| NM_004123.3:c.258-73A>G MANE Select | NP_004114.1:n.258-73A>G |