Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124075G>A , CM000664.2:g.71124075G>A | GRCh38 |
| NC_000002.11:g.71351205G>A , CM000664.1:g.71351205G>A | GRCh37 |
| NC_000002.10:g.71204713G>A | NCBI36 |
| NG_008977.1:g.11190C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032601.4:c.378+131C>T MANE Select | NP_115990.3:n.378+131C>T |
| ENST00000244217.6:c.378+131C>T MANE Select | ENSP00000244217.5:n.378+131C>T |
| NM_032601.3:c.378+131C>T | NP_115990.3:n.378+131C>T |
| ENST00000244217.5:c.378+131C>T | ENSP00000244217.5:n.378+131C>T |
| ENST00000413592.5:c.84+293C>T | ENSP00000391140.1:n.84+293C>T |
| XM_005264613.2:c.216+293C>T | XP_005264670.1:n.216+293C>T |
| XR_939729.1:n.447+131C>T | |
| XR_939729.2:n.447+131C>T |