Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29717579A>G , CM000664.2:g.29717579A>G | GRCh38 |
| NC_000002.11:g.29940445A>G , CM000664.1:g.29940445A>G | GRCh37 |
| NC_000002.10:g.29793949A>G | NCBI36 |
| NG_009445.1:g.208988T>C , LRG_488:g.208988T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.786T>C MANE Select | NP_004295.2:p.Tyr262= |
| ENST00000389048.8:c.786T>C MANE Select | ENSP00000373700.3:p.Tyr262= |
| NM_004304.4:c.786T>C | NP_004295.2:p.Tyr262= |
| ENST00000389048.7:c.786T>C | ENSP00000373700.3:p.Tyr262= |
| ENST00000618119.4:c.-346T>C | ENSP00000482733.1:n.-346T>C |
| XR_001738688.2:n.1716T>C |