Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116822818C>A , CM000673.2:g.116822818C>A | GRCh38 |
| NC_000011.9:g.116693534C>A , CM000673.1:g.116693534C>A | GRCh37 |
| NC_000011.8:g.116198744C>A | NCBI36 |
| NG_012044.1:g.5478G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357780.5:c.50-33G>T MANE Select | ENSP00000350425.3:n.50-33G>T | |
| ENST00000357780.4:c.50-33G>T | ENSP00000350425.3:n.50-33G>T | |
| NM_000482.3:c.50-33G>T | NP_000473.2:n.50-33G>T | |
| NM_000482.4:c.50-33G>T MANE Select | NP_000473.2:n.50-33G>T |