Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2431028G>A , CM000682.2:g.2431028G>A | GRCh38 |
| NC_000020.10:g.2411674G>A , CM000682.1:g.2411674G>A | GRCh37 |
| NC_000020.9:g.2359674G>A | NCBI36 |
| NG_031917.1:g.55121G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198994.3:c.1967+1G>A MANE Select | NP_945345.2:n.1967+1G>A |
| ENST00000202625.7:c.1967+1G>A MANE Select | ENSP00000202625.2:n.1967+1G>A |
| NM_001254734.1:c.1833+428G>A | NP_001241663.1:n.1833+428G>A |
| NM_001254734.2:c.1833+428G>A | NP_001241663.1:n.1833+428G>A |
| NM_198994.2:c.1967+1G>A | NP_945345.2:n.1967+1G>A |
| ENST00000202625.6:c.1967+1G>A | ENSP00000202625.2:n.1967+1G>A |
| ENST00000381423.1:c.1833+428G>A | ENSP00000370831.1:n.1833+428G>A |