Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63213916T>C , CM000682.2:g.63213916T>C | GRCh38 |
| NC_000020.10:g.61845268T>C , CM000682.1:g.61845268T>C | GRCh37 |
| NC_000020.9:g.61315713T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370339.8:c.80A>G MANE Select | ENSP00000359364.3:p.Asp27Gly | |
| ENST00000370334.4:c.80A>G | ENSP00000359359.4:p.Asp27Gly | |
| ENST00000370339.7:c.80A>G | ENSP00000359364.3:p.Asp27Gly | |
| NM_017798.3:c.80A>G | NP_060268.2:p.Asp27Gly | |
| XM_024451914.1:c.-71A>G | XP_024307682.1:n.-71A>G | |
| NM_017798.4:c.80A>G MANE Select | NP_060268.2:p.Asp27Gly |