Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.56564916A>G , CM000685.2:g.56564916A>G | GRCh38 |
| NC_000023.10:g.56591349A>G , CM000685.1:g.56591349A>G | GRCh37 |
| NC_000023.9:g.56608074A>G | NCBI36 |
| NG_016249.1:g.6324A>G , LRG_665:g.6324A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013444.4:c.1043A>G MANE Select | NP_038472.2:p.Asn348Ser |
| ENST00000338222.7:c.1043A>G MANE Select | ENSP00000345195.5:p.Asn348Ser |
| NM_013444.3:c.1043A>G , LRG_665t1:c.1043A>G | NP_038472.2:p.Asn348Ser |
| ENST00000338222.6:c.1043A>G | ENSP00000345195.5:p.Asn348Ser |
| XM_011530837.1:c.273+1176A>G | XP_011529139.1:n.273+1176A>G |