Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62613291G>A , CM000673.2:g.62613291G>A | GRCh38 |
| NC_000011.9:g.62380763G>A , CM000673.1:g.62380763G>A | GRCh37 |
| NC_000011.8:g.62137339G>A | NCBI36 |
| NG_009845.1:g.5551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278833.4:c.10G>A MANE Select | ENSP00000278833.3:p.Val4Met | |
| ENST00000278833.3:c.10G>A | ENSP00000278833.3:p.Val4Met | |
| ENST00000525801.1:c.-38-967G>A | ENSP00000433566.1:n.-38-967G>A | |
| ENST00000534093.5:c.-38-967G>A | ENSP00000432151.1:n.-38-967G>A | |
| NM_000327.3:c.10G>A | NP_000318.1:p.Val4Met | |
| NM_000327.4:c.10G>A MANE Select | NP_000318.2:p.Val4Met |