Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29694983C>G , CM000664.2:g.29694983C>G | GRCh38 |
| NC_000002.11:g.29917849C>G , CM000664.1:g.29917849C>G | GRCh37 |
| NC_000002.10:g.29771353C>G | NCBI36 |
| NG_009445.1:g.231584G>C , LRG_488:g.231584G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.819G>C MANE Select | NP_004295.2:p.Glu273Asp |
| ENST00000389048.8:c.819G>C MANE Select | ENSP00000373700.3:p.Glu273Asp |
| NM_004304.4:c.819G>C | NP_004295.2:p.Glu273Asp |
| ENST00000389048.7:c.819G>C | ENSP00000373700.3:p.Glu273Asp |
| ENST00000618119.4:c.-313G>C | ENSP00000482733.1:n.-313G>C |
| XR_001738688.2:n.1749G>C |