Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71109981C>G , CM000664.2:g.71109981C>G | GRCh38 |
| NC_000002.11:g.71337111C>G , CM000664.1:g.71337111C>G | GRCh37 |
| NC_000002.10:g.71190619C>G | NCBI36 |
| NG_008977.1:g.25284G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.520G>C MANE Select | ENSP00000244217.5:p.Glu174Gln | |
| ENST00000244217.5:c.520G>C | ENSP00000244217.5:p.Glu174Gln | |
| ENST00000413592.5:c.226G>C | ENSP00000391140.1:p.Glu76Gln | |
| ENST00000462609.2:n.466G>C | ||
| NM_032601.3:c.520G>C | NP_115990.3:p.Glu174Gln | |
| XM_005264613.2:c.358G>C | XP_005264670.1:p.Glu120Gln | |
| XR_939729.2:n.685G>C | ||
| NM_032601.4:c.520G>C MANE Select | NP_115990.3:p.Glu174Gln |