Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33142392C>G , CM000665.2:g.33142392C>G | GRCh38 |
| NC_000003.11:g.33183884C>G , CM000665.1:g.33183884C>G | GRCh37 |
| NC_000003.10:g.33158888C>G | NCBI36 |
| NG_008122.1:g.33435C>G , LRG_4:g.33435C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006371.5:c.1153-3C>G MANE Select | NP_006362.1:n.1153-3C>G |
| ENST00000320954.11:c.1153-3C>G MANE Select | ENSP00000323696.5:n.1153-3C>G |
| NM_001393363.1:c.1069-3C>G | NP_001380292.1:n.1069-3C>G |
| NM_001393364.1:c.1024-3C>G | NP_001380293.1:n.1024-3C>G |
| NM_001393365.1:c.1003-3C>G | NP_001380294.1:n.1003-3C>G |
| NM_006371.4:c.1153-3C>G , LRG_4t1:c.1153-3C>G | NP_006362.1:n.1153-3C>G |
| ENST00000320954.10:c.1153-3C>G | ENSP00000323696.5:n.1153-3C>G |
| ENST00000449224.1:c.1024-3C>G | ENSP00000409997.1:n.1024-3C>G |