Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8079541T>C , CM000679.2:g.8079541T>C | GRCh38 |
| NC_000017.10:g.7982859T>C , CM000679.1:g.7982859T>C | GRCh37 |
| NC_000017.9:g.7923584T>C | NCBI36 |
| NG_007099.1:g.13163A>G | |
| NG_007099.2:g.13176A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.928-2A>G MANE Select | NP_001130.1:n.928-2A>G |
| ENST00000647874.1:c.928-2A>G MANE Select | ENSP00000497784.1:n.928-2A>G |
| NM_001139.2:c.928-2A>G | NP_001130.1:n.928-2A>G |
| ENST00000319144.4:c.928-2A>G | ENSP00000315167.4:n.928-2A>G |
| ENST00000583276.5:n.312-2A>G | |
| ENST00000584116.1:n.327+228A>G | |
| ENST00000649809.1:c.135+228A>G | ENSP00000496845.1:n.135+228A>G |
| XR_001752778.1:n.33+17T>C |