Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48527256G= , CM000685.2:g.48527256G= | GRCh38 |
| NC_000023.10:g.48385644G= , CM000685.1:g.48385644G= | GRCh37 |
| NC_000023.9:g.48270588G= | NCBI36 |
| NG_007452.1:g.10481G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006579.3:c.440G= MANE Select | NP_006570.1:p.Arg147= |
| ENST00000495186.6:c.440G= MANE Select | ENSP00000417052.1:p.Arg147= |
| NM_006579.2:c.440G= | NP_006570.1:p.Arg147= |
| ENST00000276096.10:n.398G= | |
| ENST00000446158.5:c.440G= | ENSP00000390031.1:p.Arg147= |
| ENST00000466461.1:n.279G= | |
| ENST00000495186.5:c.440G= | ENSP00000417052.1:p.Arg147= |
| ENST00000498425.1:n.561G= | |
| ENST00000651615.1:c.440G= | ENSP00000498524.1:p.Arg147= |