Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29717589C>G , CM000664.2:g.29717589C>G | GRCh38 |
| NC_000002.11:g.29940455C>G , CM000664.1:g.29940455C>G | GRCh37 |
| NC_000002.10:g.29793959C>G | NCBI36 |
| NG_009445.1:g.208978G>C , LRG_488:g.208978G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.776G>C MANE Select | NP_004295.2:p.Arg259Pro |
| ENST00000389048.8:c.776G>C MANE Select | ENSP00000373700.3:p.Arg259Pro |
| NM_004304.4:c.776G>C | NP_004295.2:p.Arg259Pro |
| ENST00000389048.7:c.776G>C | ENSP00000373700.3:p.Arg259Pro |
| ENST00000618119.4:c.-356G>C | ENSP00000482733.1:n.-356G>C |
| XR_001738688.2:n.1706G>C |