Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116822664T>C , CM000673.2:g.116822664T>C | GRCh38 |
| NC_000011.9:g.116693380T>C , CM000673.1:g.116693380T>C | GRCh37 |
| NC_000011.8:g.116198590T>C | NCBI36 |
| NG_012044.1:g.5632A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357780.5:c.171A>G MANE Select | ENSP00000350425.3:p.Gln57= | |
| ENST00000357780.4:c.171A>G | ENSP00000350425.3:p.Gln57= | |
| NM_000482.3:c.171A>G | NP_000473.2:p.Gln57= | |
| NM_000482.4:c.171A>G MANE Select | NP_000473.2:p.Gln57= |