Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63202802T>C , CM000682.2:g.63202802T>C | GRCh38 |
| NC_000020.10:g.61834154T>C , CM000682.1:g.61834154T>C | GRCh37 |
| NC_000020.9:g.61304599T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370339.8:c.1138A>G MANE Select | ENSP00000359364.3:p.Lys380Glu | |
| ENST00000370334.4:c.133-6068A>G | ENSP00000359359.4:n.133-6068A>G | |
| ENST00000370339.7:c.1138A>G | ENSP00000359364.3:p.Lys380Glu | |
| NM_017798.3:c.1138A>G | NP_060268.2:p.Lys380Glu | |
| XM_024451914.1:c.988A>G | XP_024307682.1:p.Lys330Glu | |
| NM_017798.4:c.1138A>G MANE Select | NP_060268.2:p.Lys380Glu |