Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33120388A>G , CM000665.2:g.33120388A>G | GRCh38 |
| NC_000003.11:g.33161880A>G , CM000665.1:g.33161880A>G | GRCh37 |
| NC_000003.10:g.33136884A>G | NCBI36 |
| NG_008122.1:g.11431A>G , LRG_4:g.11431A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006371.5:c.516A>G MANE Select | NP_006362.1:p.Leu172= |
| ENST00000320954.11:c.516A>G MANE Select | ENSP00000323696.5:p.Leu172= |
| NM_001393363.1:c.516A>G | NP_001380292.1:p.Leu172= |
| NM_001393364.1:c.516A>G | NP_001380293.1:p.Leu172= |
| NM_001393365.1:c.472-4020A>G | NP_001380294.1:n.472-4020A>G |
| NM_006371.4:c.516A>G , LRG_4t1:c.516A>G | NP_006362.1:p.Leu172= |
| ENST00000320954.10:c.516A>G | ENSP00000323696.5:p.Leu172= |
| ENST00000449224.1:c.516A>G | ENSP00000409997.1:p.Leu172= |
| ENST00000485310.1:n.110A>G |