Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33132553A>G , CM000665.2:g.33132553A>G | GRCh38 |
| NC_000003.11:g.33174045A>G , CM000665.1:g.33174045A>G | GRCh37 |
| NC_000003.10:g.33149049A>G | NCBI36 |
| NG_008122.1:g.23596A>G , LRG_4:g.23596A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006371.5:c.923-2A>G MANE Select | NP_006362.1:n.923-2A>G |
| ENST00000320954.11:c.923-2A>G MANE Select | ENSP00000323696.5:n.923-2A>G |
| NM_001393363.1:c.923-2A>G | NP_001380292.1:n.923-2A>G |
| NM_001393364.1:c.794-2A>G | NP_001380293.1:n.794-2A>G |
| NM_001393365.1:c.773-2A>G | NP_001380294.1:n.773-2A>G |
| NM_006371.4:c.923-2A>G , LRG_4t1:c.923-2A>G | NP_006362.1:n.923-2A>G |
| ENST00000320954.10:c.923-2A>G | ENSP00000323696.5:n.923-2A>G |
| ENST00000449224.1:c.794-2A>G | ENSP00000409997.1:n.794-2A>G |
| ENST00000485310.1:n.517-2A>G |