Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31592973C= , CM000680.2:g.31592973C= | GRCh38 |
| NC_000018.9:g.29172936C= , CM000680.1:g.29172936C= | GRCh37 |
| NC_000018.8:g.27426934C= | NCBI36 |
| NG_009490.1:g.6207C= , LRG_416:g.6207C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237014.8:c.147C= MANE Select | ENSP00000237014.4:p.Ala49= | |
| ENST00000610404.5:c.51C= | ENSP00000477599.2:p.Ala17= | |
| ENST00000649620.1:c.147C= | ENSP00000497927.1:p.Ala49= | |
| ENST00000237014.7:c.147C= | ENSP00000237014.3:p.Ala49= | |
| ENST00000432547.7:n.173C= | ||
| ENST00000541025.2:n.173C= | ||
| ENST00000610404.4:c.147C= | ENSP00000477599.1:p.Ala49= | |
| ENST00000613781.1:c.147C= | ENSP00000479174.1:p.Ala49= | |
| NM_000371.3:c.147C= , LRG_416t1:c.147C= | NP_000362.1:p.Ala49= | |
| NM_000371.4:c.147C= MANE Select | NP_000362.1:p.Ala49= |