Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8079394A>G , CM000679.2:g.8079394A>G | GRCh38 |
| NC_000017.10:g.7982712A>G , CM000679.1:g.7982712A>G | GRCh37 |
| NC_000017.9:g.7923437A>G | NCBI36 |
| NG_007099.1:g.13310T>C | |
| NG_007099.2:g.13323T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001139.3:c.1071+2T>C MANE Select | NP_001130.1:n.1071+2T>C |
| ENST00000647874.1:c.1071+2T>C MANE Select | ENSP00000497784.1:n.1071+2T>C |
| NM_001139.2:c.1071+2T>C | NP_001130.1:n.1071+2T>C |
| ENST00000319144.4:c.1071+2T>C | ENSP00000315167.4:n.1071+2T>C |
| ENST00000577351.5:n.18+2T>C | |
| ENST00000583276.5:n.455+2T>C | |
| ENST00000584116.1:n.327+375T>C | |
| ENST00000649809.1:c.135+375T>C | ENSP00000496845.1:n.135+375T>C |